2026 ICD-10-CM Diagnosis Code Q87.0Congenital malformation syndromes predominantly affecting facial appearance

ICD-10-CM Codes›Q00-Q99›Q80-Q89›Q87

ICD-10-CM Q87.0
CMSSource: CMS FY 2026 ICD-10-CM dataset · Effective Oct 1, 2025 – Sep 30, 2026

Q87.0 is a billable ICD-10-CM diagnosis code for congenital malformation syndromes predominantly affecting facial appearance. It is valid on HIPAA claims for fiscal year 2026 (October 1, 2025 through September 30, 2026) and groups to MS-DRG 564 through 566. The code is exempt from POA reporting. In AHRQ's Clinical Classifications Software (CCSR), this diagnosis falls under Other specified and unspecified congenital anomalies.

Code Identity

ICD-10-CM Code
Q87.0
Billable Status
Yes — Valid for Submission
Code Describes
Congenital malformation syndromes predominantly affecting facial appearance
Short Description
Congen malform syndromes predom affecting facial appearance
Parent Code
Q87
Other specified congenital malformation syndromes affecting multiple systems

Code Classification

ChapterQ00-Q99Congenital malformations, deformations and chromosomal abnormalities
SectionQ80-Q89Other congenital malformations
CategoryQ87Other specified congenital malformation syndromes affecting multiple systems
This CodeQ87.0Congenital malformation syndromes predominantly affecting facial appearance

Present on Admission (POA)Billing

Q87.0 is exempt from POA reporting on inpatient claims to general acute care hospitals. Review other POA exempt codes.

Approximate SynonymsGuidance

Alternate terms and clinical phrases that map to this code.

  • 10p partial monosomy syndrome
  • 16p12.1p12.3 triplication syndrome
  • 4q partial monosomy syndrome
  • 4q25 proximal deletion syndrome
  • Aase Smith type 1 syndrome
  • Abducens nerve palsy
  • Absence of clavicle
  • Acrocallosal syndrome
  • Acrocephalopolysyndactyly
  • Acrocephalopolysyndactyly type II
  • Acrocephalosyndactyly
  • Acrocephalosyndactyly type I
  • Acromegaloid facial appearance syndrome
  • Acromelic frontonasal dysplasia
  • Acro-oto-ocular syndrome
  • Acrorenal mandibular syndrome
  • Aglossia-adactyly syndrome
  • AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
  • ALDH18A1-related de Barsy syndrome
  • Ambiguous genitalia
  • Anal atresia
  • Aneurysm osteoarthritis syndrome
  • Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome
  • Aplasia of clavicle
  • Arachnodactyly
  • Arachnodactyly and intellectual disability with facial dysmorphism syndrome
  • Asymmetric crying facies syndrome
  • Asymmetry of mandible
  • Athetoid movement
  • Auriculo-condylar syndrome
  • Axonal neuropathy
  • Baraitser Winter cerebrofrontofacial syndrome
  • Basel Vanagaite Smirin Yosef syndrome
  • Bifid nose
  • Bilateral congenital dislocation of hip
  • Bilateral hearing loss
  • Binder syndrome
  • Blepharonasofacial malformation syndrome
  • BNAR syndrome
  • Bowing of upper limb
  • Brachycephaly
  • Brachytelephalangy, facial dysmorphism, Kallmann syndrome
  • Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
  • Café au lait spots
  • Cardio-acral-facial syndrome
  • Cardio-facio-cutaneous syndrome
  • CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
  • Central obesity
  • Cerebellar-facial-dental syndrome
  • Cerebrofacioarticular syndrome
  • Cerebro-facio-thoracic dysplasia
  • Cerebrooculonasal syndrome
  • Char syndrome
  • Charlie M syndrome
  • CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome
  • Chronic deafness
  • Clark Baraitser syndrome
  • Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome
  • Cleft mandible
  • CODAS syndrome
  • Combined immunodeficiency with faciooculoskeletal anomalies syndrome
  • Congenital anomaly of aortic arch AND/OR descending aorta
  • Congenital asymmetry of jaw
  • Congenital atrophy of optic nerve
  • Congenital cleft nose
  • Congenital conductive hearing loss
  • Congenital corneal dystrophy
  • Congenital cubitus valgus
  • Congenital diaphragmatic hernia
  • Congenital dislocation of left hip
  • Congenital dislocation of right hip
  • Congenital disorder of facial nerve
  • Congenital dysplasia of nail unit
  • Congenital facial asymmetry
  • Congenital facial nerve palsy
  • Congenital generalized hypertrichosis
  • Congenital hypoplasia of bone of radius and/or ulna
  • Congenital hypoplasia of ulna
  • Congenital hypotrichia
  • Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome
  • Congenital livedo reticularis
  • Congenital mandibular asymmetry
  • Congenital nonprogressive myopathy with Moebius and Robin sequences
  • Congenital omphalocele
  • Congenital sixth nerve palsy
  • Congenital stenosis of carotid artery
  • Congenital umbilical hernia
  • Connective tissue disorder due to lysyl hydroxylase-3 deficiency
  • Contracture with ectodermal dysplasia and orofacial cleft syndrome
  • Cortical blindness
  • Crane Heise syndrome
  • Craniodigital syndrome and intellectual disability syndrome
  • Craniofacial dysplasia osteopenia syndrome
  • Craniofacial dyssynostosis syndrome
  • Craniofacial microsomia
  • Craniofaciofrontodigital syndrome
  • Craniofrontonasal dysplasia
  • Craniomicromelic syndrome
  • Cryptophthalmos syndrome
  • Cutis laxa, autosomal recessive
  • Cyclops
  • Cyclops hypognathus
  • Cyprus facial neuromusculoskeletal syndrome
  • Dandy-Walker syndrome
  • de Barsey syndrome
  • Deafness and intellectual disability Martin Probst type syndrome
  • Deletion of part of chromosome 10
  • Deletion of part of chromosome 4
  • Deletion of part of chromosome 5
  • Deletion of part of long arm of chromosome 5
  • Developmental delay, facial dysmorphism syndrome due to MED13L deficiency
  • Developmental malformation of branchial arch
  • Dextrotransposition of aorta
  • Diencephalic mesencephalic junction dysplasia
  • Dislocation of hip and facial dysmorphism syndrome
  • Dobrow syndrome
  • Duane's syndrome
  • DYRK1A-related intellectual disability syndrome
  • Dysplasia with defective mineralization
  • Ear, face and neck congenital anomalies
  • Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome
  • Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome
  • Edinburgh malformation syndrome
  • Emery Nelson syndrome
  • Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
  • Expressive dysphasia
  • Facial dysmorphism, anorexia, cachexia, eye and skin anomalies syndrome
  • Facial dysmorphism, cleft palate, loose skin syndrome
  • Facial dysmorphism, conductive hearing loss, heart defect syndrome
  • Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
  • Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome
  • Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
  • Facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome
  • Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome
  • Facial milia, lobate tongue, lingual and labial frenula syndrome
  • Facio-auriculo-vertebral spectrum
  • Familial aplasia of the vermis
  • Familial omphalocele syndrome with facial dysmorphism
  • Filippi syndrome
  • Fine Lubinsky syndrome
  • First and second branchial arch syndrome
  • First arch syndrome
  • Flat face, microstomia, ear anomaly syndrome
  • Frank-Ter Haar syndrome
  • Freeman-Sheldon syndrome
  • Frontonasal dysplasia sequence
  • Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
  • Fryns macrocephaly
  • Fryns Smeets Thiry syndrome
  • Fryns syndrome
  • Gabriele-de Vries syndrome
  • Genetic syndromic childhood obesity
  • Goldberg Shprintzen megacolon syndrome
  • Goldenhar syndrome
  • Gollop syndrome
  • Gorlin-Chaudhry-Moss syndrome
  • Greig cephalopolysyndactyly syndrome
  • Grob's syndrome
  • Hadziselimovic syndrome
  • Hall Riggs syndrome
  • Hallermann Streiff like syndrome
  • Hallermann-Streiff syndrome
  • Hanhart's syndrome
  • Harrod syndrome
  • Hip pathological dislocation
  • Holzgreve syndrome
  • Hyperreflexia
  • Hypertelorism
  • Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome
  • Illum syndrome
  • Immuno-osseous dysplasia
  • Intellectual disability Buenos Aires type
  • Intellectual disability Wolff type
  • Intellectual disability, brachydactyly, Pierre Robin syndrome
  • Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome
  • Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome
  • Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome
  • Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome
  • Intellectual disability, expressive aphasia, facial dysmorphism syndrome
  • Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency
  • Intellectual disability, facial dysmorphism, hand anomalies syndrome
  • Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome
  • Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
  • Intellectual disability, severe speech delay, mild dysmorphism syndrome
  • Internal carotid artery stenosis
  • Isolated hereditary congenital facial paralysis
  • Isotretinoin-like syndrome
  • Jawad syndrome
  • Joint contractures, developmental delay, Pierre Robin syndrome
  • Joubert syndrome
  • Joubert syndrome with orofaciodigital defect
  • Juberg Marsidi syndrome
  • Kagami Ogata syndrome
  • Kapur Toriello syndrome
  • Keipert syndrome
  • Keppen Lubinsky syndrome
  • King Denborough syndrome
  • Klippel-Feil anomaly, myopathy, facial dysmorphism syndrome
  • Klippel-Feil sequence
  • Koolen De Vries syndrome
  • Lamb Shaffer syndrome
  • Lanugo
  • Larsen-like syndrome B3GAT3 type
  • Lentiglobus
  • Lethal faciocardiomelic dysplasia
  • Lethal polymalformative syndrome Boissel type
  • Livedo reticularis
  • Lymphedema of lower extremity
  • Lymphedema, atrial septal defect, facial changes syndrome
  • Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome
  • Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome
  • Marfanoid physique
  • McDonough syndrome
  • Megalocornea
  • Mehes syndrome
  • Melnick-Fraser syndrome
  • Menke Hennekam syndrome
  • Metopic ridging, ptosis, facial dysmorphism syndrome
  • Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome
  • Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome
  • Microphthalmos due to Fryns syndrome
  • Microstomia
  • Microtia
  • Mietens syndrome
  • Miller syndrome
  • Moebius syndrome
  • Moebius syndrome, axonal neuropathy, hypogonadotropic hypogonadism syndrome
  • Mohr syndrome
  • Mowat-Wilson syndrome
  • Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome
  • Moyamoya disease
  • Mucopolysaccharidosis-like plus disease
  • Multicentric osteolysis nodulosis arthropathy spectrum
  • Multiple malformation syndrome with facial defects as major feature
  • Multiple malformation syndrome with facial-limb defects as major feature
  • Multiple malformation syndrome, moderate short stature, facial
  • Multiple malformation syndrome, small stature, without skeletal dysplasia
  • Nager syndrome
  • Night blindness
  • Night blindness, skeletal anomalies, dysmorphism syndrome
  • Nijmegen breakage syndrome-like disorder
  • Non-specific syndromic intellectual disability
  • Occipital encephalocele
  • Oculoauriculofrontonasal syndrome
  • Oculo-auriculo-vertebral spectrum
  • Oculocerebrodental syndrome
  • Oculocerebrofacial syndrome Kaufman type
  • Oculodento-osseous dysplasia
  • Oculomaxillofacial dysostosis
  • Oculo-palato-digital syndrome
  • Ogden syndrome
  • Ophthalmomandibulomelic dysplasia
  • Opocephalus
  • Oral-facial-digital syndrome
  • Oro-facial digital syndrome type 1
  • Oro-facial digital syndrome type 10
  • Oro-facial digital syndrome type 11
  • Oro-facial digital syndrome type 12
  • Oro-facial digital syndrome type 13
  • Oro-facial digital syndrome type 14
  • Oro-facial digital syndrome type 5
  • Oro-facial digital syndrome type 8
  • Orofacial-digital syndrome III
  • Orofacial-digital syndrome IV
  • Oromandibular-limb hypogenesis spectrum
  • Otocephalic syndrome
  • Otofaciocervical syndrome
  • Otopalatodigital syndrome spectrum disorder
  • Oto-palato-digital syndrome, type I
  • Oto-palato-digital syndrome, type II
  • Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome
  • Pallister W syndrome
  • Pathological dislocation of bilateral hips
  • Pathological dislocation of left hip
  • Pathological dislocation of right hip
  • PDE4D haploinsufficiency syndrome
  • Pelviscapular dysplasia
  • Peripheral axonal neuropathy
  • Perlman syndrome
  • Pierpont syndrome
  • Pierre Robin sequence faciodigital anomaly syndrome
  • Pilotto syndrome
  • Plagiocephaly
  • Poliosis
  • Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome
  • Potter's facies
  • Prieto Badia Mulas syndrome
  • Proximal deletion of long arm of chromosome 4
  • Pseudoaminopterin syndrome
  • Pseudopapilledema
  • PYCR2-related microcephaly, progressive leukoencephalopathy
  • Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome
  • Ramos Arroyo syndrome
  • Renal agenesis
  • RIDDLE syndrome
  • Right aortic arch
  • Robin sequence
  • Robin sequence and oligodactyly syndrome
  • Roifman syndrome
  • Rozin Hertz Goodman syndrome
  • Ruvalcaba syndrome
  • Sanjad Sakati syndrome
  • SATB2-associated syndrome
  • SCARF syndrome
  • Schilbach Rott syndrome
  • Seaver Cassidy syndrome
  • Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome
  • Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome
  • Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome
  • Severe X-linked intellectual disability Gustavson type
  • Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome
  • Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome
  • Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome
  • Short ulna, dysmorphism, hypotonia, intellectual disability syndrome
  • Sixth cranial nerve finding
  • Sonoda syndrome
  • Speech delay
  • Spherophakia
  • Spondylometaphyseal dysplasia, bowed forearms, facial dysmorphism syndrome
  • STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome
  • STAR syndrome
  • Steel syndrome
  • Steinfeld syndrome
  • Stenosis of intracranial carotid artery
  • Syndromic multisystem autoimmune disease due to ITCH deficiency
  • Syndromic X-linked intellectual disability type 11
  • TARP syndrome
  • Teebi Shaltout syndrome
  • Telecanthus
  • Temple syndrome
  • Temtamy syndrome
  • Thakker Donnai syndrome
  • Thin ribs, tubular bones, dysmorphism syndrome
  • THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
  • TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome
  • Tongue absent
  • Toriello Carey syndrome
  • Townes syndrome
  • Van den Ende-Gupta syndrome
  • Velofacioskeletal syndrome
  • Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome
  • WAC-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome
  • Weill-Marchesani syndrome
  • White forelock with malformations syndrome
  • Wildervanck syndrome
  • Wilson Turner syndrome
  • Witteveen Kolk syndrome
  • X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability
  • X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome
  • X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome
  • X-linked intellectual disability hypotonic face syndrome
  • X-linked intellectual disability Nascimento type
  • X-linked intellectual disability Seemanova type
  • X-linked intellectual disability Siderius type
  • X-linked intellectual disability Stevenson type
  • X-linked intellectual disability Stoll type
  • X-linked intellectual disability with cubitus valgus and dysmorphism syndrome
  • X-linked intellectual disability with plagiocephaly syndrome
  • X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome
  • X-linked sensorineural hearing loss
  • Zechi Ceide syndrome

Tabular List NotesGuidance

Coding notes and annotation back-references applicable to this code.

Inclusion Terms

  • Acrocephalopolysyndactyly
  • Acrocephalosyndactyly Apert
  • Cryptophthalmos syndrome
  • Cyclopia
  • Goldenhar syndrome
  • Moebius syndrome
  • Oro-facial-digital syndrome
  • Robin syndrome
  • Whistling face

Index to Diseases and InjuriesGuidance

Alphabetical index entries that point to this code.

External Cause of Injuries IndexGuidance

References for this code in the External Cause of Injuries Index.

    • Acrocephalopolysyndactyly
    • Acrocephalosyndactyly
    • Aglossia-adactylia syndrome
    • Apert's syndrome
    • Carpenter's syndrome
    • Cryptophthalmos
      • syndrome
    • Cyclopia, cyclops
    • Cyclopism
    • Dyscranio-pygo-phalangy
    • Dysplasia
      • oculodentodigital
    • Fraser's syndrome
    • Freeman Sheldon syndrome
    • Goldenhar(-Gorlin) syndrome
    • Gorlin-Chaudry-Moss syndrome
    • Hallerman-Streiff syndrome
    • Hanhart's syndrome
    • Marchesani(-Weill) syndrome
    • Meyer-Schwickerath and Weyers syndrome
    • Moebius, Möbius
      • syndrome
    • Moebius, Möbius
      • syndrome
        • congenital oculofacial paralysis (with other anomalies)
    • Mohr's syndrome(Types I and II)
    • Papillon-Léage and Psaume syndrome
    • Paralysis, paralytic(complete) (incomplete)
      • oculofacial, congenital (Moebius)
    • Pierre Robin deformity or syndrome
    • Robin(-Pierre) syndrome
    • Syndrome
      • congenital
        • facial diplegia
    • Syndrome
      • congenital
        • oculo-auriculovertebral
    • Syndrome
      • congenital
        • oculofacial diplegia (Moebius)
    • Syndrome
      • cryptophthalmos
    • Syndrome
      • eyelid-malar-mandible
    • Syndrome
      • first arch
    • Syndrome
      • micrognathia-glossoptosis
    • Syndrome
      • oral-facial-digital
    • Syndrome
      • oro-facial-digital
    • Syndrome
      • oto-palatal-digital
    • Syndrome
      • whistling face
    • Tower skull
      • with exophthalmos
    • Ullrich-Feichtiger syndrome
    • Whistling face

Clinical ClassificationClinical

AHRQ’s CCSR groups this code into broader clinical categories.

CCSR MAL010
Other specified and unspecified congenital anomalies
Default principal diagnosis: inpatient Yes · outpatient Yes

Clinical InformationClinical

  • Microstomia

    a congenital defect in which the mouth is unusually small. (dorland, 27th ed)

  • Goldenhar Syndrome

    mandibulofacial dysostosis with congenital eyelid dermoids.

  • Craniosynostoses

    premature closure of one or more cranial sutures. it often results in plagiocephaly. craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as acrocephalosyndactylia; and craniofacial dysostosis.

  • Plagiocephaly

    the condition characterized by uneven or irregular shape of the head often in parallelogram shape with a flat spot on the back or one side of the head. it can either result from the premature cranial suture closure (craniosynostosis) or from external forces (nonsynostotic plagiocephaly).

  • Plagiocephaly, Nonsynostotic

    a deformity of the skull that is not due to bone fusion (synostosis), such as craniosynostoses, and is characterized by an asymmetric skull and face. it is observed with an increased frequency in infants after the adoption of supine sleeping recommendations to prevent sudden infant death syndrome.

  • Hypertelorism

    abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.

  • Livedo Reticularis

    a condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. this red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. the condition is intensified by cold exposure and relieved by rewarming.

  • Livedoid Vasculopathy

    a rare cutaneous thrombotic disease due to occlusion of dermal vessels. it is characterized by purpuric maculae and ulcerations especially during summer which form scars called atrophie blanche. it is more associated with other syndromes (e.g., protein c deficiency; hyperhomocysteinemia). livedo reticularis with systemic involvement and stroke is sneddon syndrome.

  • Sneddon Syndrome

    a systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic cerebral infarction; coronary disease, and hypertension. elevation of antiphospholipid antibody titers (see also antiphospholipid syndrome), cardiac valvulopathy, ischemic attack, transient; seizures; dementia; and chronic ischemia of the extremities may also occur. pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media (from jablonski, dictionary of syndromes & eponymic diseases, 2d ed; adams et al., principles of neurology, 6th ed, p861; arch neurol 1997 jan;54(1):53-60). mutations in the cecr1 gene (ada2 protein, human) are associated with sneddon syndrome.

  • Arachnodactyly

    an abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. arachnodactyly can include feet and toes. arachnodactyly has been associated with several gene mutations and syndromes.

  • Night Blindness

    failure or imperfection of vision at night or in dim light, with good vision only on bright days. (dorland, 27th ed)

  • Moyamoya Disease

    a noninflammatory, progressive occlusion of the intracranial carotid arteries and the formation of netlike collateral arteries arising from the circle of willis. cerebral angiogram shows the puff-of-smoke (moyamoya) collaterals at the base of the brain. it is characterized by endothelial hyperplasia and fibrosis with thickening of arterial walls. this disease primarily affects children but can also occur in adults.

  • Acrocallosal Syndrome

    autosomal recessive syndrome characterized by hypogenesis or agenesis of corpus callosum. clinical features include mental retardation; craniofacial abnormalities; digital malformations, and growth retardation.

  • Acrocephalosyndactyly

    a genetic disorder characterized by craniosynostosis and fusion of the fingers and toes.

  • TWIST1 Gene|TWIST1|TWIST1|Twist Homolog 1 (Acrocephalosyndactyly 3; Saethre-Chotzen Syndrome) (Drosophila) Gene

    this gene plays a role in regulation of transcription and the inhibition of apoptosis. it is also involved in the control of morphogenesis during embryonic development.

  • TWIST1 wt Allele|ACS3|BPES2|BPES3|SCS|TWIST|Twist Homolog 1 (Acrocephalosyndactyly 3; Saethre-Chotzen Syndrome) (Drosophila) wt Allele

    human twist1 wild-type allele is located in the vicinity of 17p13.3 and is approximately 16 kb in length. this allele, which encodes twist-related protein 1, plays a role in the regulation of both transcription and cell lineage determination. mutations in the gene are associated with saethre-chotzen, robinow-sorauf, and baller-gerold syndromes.

  • Twist-Related Protein 1|Acrocephalosyndactyly 3 Protein|Class A Basic Helix-Loop-Helix Protein 38|H-Twist|TWIST|TWIST1|TWIST1 Protein|Twist Homolog|Twist Homolog 1|Twist Related Protein 1|bHLHa38

    twist-related protein 1 (202 aa, ~21 kda) is encoded by the human twist1 gene. this protein plays a role in the negative regulation of both transcription and myogenesis.

  • Type I Acrocephalosyndactyly|Acrocephalosyndactyly Type I|Apert Syndrome

    an autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the fgfr2 gene. it is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes.

  • Type III Acrocephalosyndactyly|Acrocephalosyndactyly Type III|Saethre-Chotzen Syndrome|Saethre-Chotzen Syndrome

    a rare autosomal dominant syndrome caused by mutations in the twist1 gene. it is characterized by premature closure of skull bones resulting in abnormally shaped head, high forehead, hypertelorism, and facial asymmetry. it may be associated with fusion of certain fingers or toes.

  • Type V Acrocephalosyndactyly|Acrocephalosyndactyly Type V|Noack Syndrome|Pfeiffer Syndrome

    an autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the fgfr1 or fgfr2 genes. it is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes.

  • Spherophakia

    a congenital disorder of the eye where the lens is abnormally small and spherical.

  • Weill-Marchesani Syndrome 1|Congenital Mesodermal Dysmorphodystrophy|Spherophakia-Brachymorphia Syndrome|Spherophakia-brachymorphia syndrome|Weill-Marchesani, Autosomal Recessive

    an autosomal recessive subtype of weill-marchesani syndrome caused by mutations in the adamts10 gene, encoding a disintegrin and metalloproteinase with thrombospondin motifs 10.

  • Opocephalus

    a malformed fetus with ears fused to the head, one orbit, no mouth or nose.

  • Right Aortic Arch

    an anatomic abnormality that occurs during embryonic development, in which the aortic arch is right-sided.

  • Facial Asymmetry

    a finding indicating the absence of balanced proportions between parts of the face.

  • Congenital Hydronephrosis

    collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces that is present at birth.

  • Congenital Diaphragmatic Hernia

    diaphragmatic hernia that is present at birth.

  • Cryptophthalmos Syndrome

    a rare, genetically heterogenous syndrome, characterized by cryptophthalmos, craniofacial abnormalities, urogenital abnormalities, and syndactyly.

  • Bilateral Renal Agenesis

    a congenital abnormality characterized by the absence of both kidneys.

  • Renal Agenesis

    a congenital abnormality characterized by the absence of one or both kidneys.

  • Unilateral Renal Agenesis|Congenital Single Kidney|Congenital Solitary Kidney|Congenital Solitary Kidney

    a congenital abnormality characterized by the presence of only one kidney.

  • Goldenhar Syndrome

    a congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. the defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate.

  • Congenital Facial Nerve Palsy

    partial or complete paralysis of the facial muscles of one side of an individual's face that is present at birth. it is caused by damage to the seventh cranial nerve.

  • Livedo Reticularis

    a recurrent purple discoloration of the skin that does not blanche and is found in a lacy, network pattern, most often in the lower extremities. it may be aggravated by exposure to cold and is classified as idiopathic or secondary. secondary livedo reticularis may be a cutaneous manifestation of immune system disorders (e.g., lupus erythematosus, rheumatoid arthritis, cryoglobulinemia, lymphoma, etc), and hematologic disorders (polycythemia vera).

  • Acute Motor and Sensory Axonal Neuropathy|Acute Motor And Sensory Axonal Neuropathy|Acute Motor-Sensory Axonal Neuropathy|Acute Motor-Sensory Axonal Neuropathy

    a subtype of guillain-barre syndrome that targets sensory motor axons, and is characterized by acute onset of quadriparesis, distal sensory loss, areflexia, and respiratory insufficiency.

  • Acute Motor Axonal Neuropathy|AMAN

    a subtype of guillain-barre syndrome that targets motor axons, and is characterized by symmetric limb weakness, diffuse areflexia, facial and oropharyngeal muscle weakness, and respiratory insufficiency.

  • Axonal Neuropathy

    any nerve disorder affecting the axon of a nerve.

  • GAN wt Allele|GAN1|Giant Axonal Neuropathy (Gigaxonin) Gene|Gigaxonin wt Allele|KLHL16

    human gan wild-type allele is located in the vicinity of 16q24.1 and is approximately 65 kb in length. this allele, which encodes gigaxonin protein, is involved in both ubiquitination and neurofilament structure. mutation of the gene is associated with giant axonal neuropathy.

  • Giant Axonal Neuropathy

    a rare inherited disorder affecting the neurofilaments. it is caused by mutations in the gan gene. it is characterized by the presence of abnormally large nerve cell axons. signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.

  • Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2|AOA2|Ataxia with Oculomotor Apraxia Type 2|SCAN2

    an autosomal recessive condition caused by mutation(s) in the setx gene, encoding probable helicase senataxin. it is characterized by juvenile onset progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased concentrations of serum alpha-fetoprotein. oculomotor apraxia is common, but is not always present.

  • Cortical Blindness

    visual impairment due to visual cortex dysfunction.

  • Moyamoya Disease

    a rare inherited vascular disorder characterized by constriction of arteries at the base of the brain, resulting in the formation of collateral circulation in order to compensate for the constriction. the name "moyamoya" in japanese means "puff of smoke" and derives from the characteristic radiographic appearance of the collateral vessels.

  • Moyamoya Disease 2|MYMY2

    an autosomally inherited subtype of moyamoya disease often presenting in childhood caused by mutation(s) in the rnf213 gene, encoding e3 ubiquitin-protein ligase rnf213.

  • RNF213 wt Allele|ALK Lymphoma Oligomerization Partner on Chromosome 17 Gene|ALO17|C17orf27|Chromosome 17 Open Reading Frame 27 Gene|DKFZp762N1115|FLJ13051|KIAA1554|KIAA1618|MGC46622|MGC9929|MYMY2|MYSTR|Moyamoya Disease 2 Gene|NET57|Ring Finger Protein 213 wt Allele|hCG_1812857

    human rnf213 wild-type allele is located in the vicinity of 17q25.3 and is approximately 135 kb in length. this allele, which encodes e3 ubiquitin-protein ligase rnf213 protein, may play a role in the regulation of protein ubiquitination. a chromosomal translocation t(2;17)(p23;q25) of this gene with the alk gene is associated with anaplastic large cell lymphoma.

  • Fryns Syndrome

    a rare syndrome inherited in an autosomal recessive pattern. it is characterized by the presence of diaphragmatic defects, distinctive facial features (hypertelorism, low-set ears, flat nasal bridge, and micrognathia), distal digital hypoplasia, lung hypoplasia, and brain, gastrointestinal, and cardiovascular malformations.

  • Acrocallosal Syndrome

    a rare genetic syndrome characterized by agenesis of the corpus callosum, polydactyly, mental and motor retardation.

  • Joubert Syndrome

    a rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.

  • Joubert Syndrome 17|JBTS17

    an autosomal recessive subtype of joubert syndrome caused by mutation(s) in the cplane1 gene, encoding ciliogenesis and planar polarity effector 1.

  • Joubert Syndrome 3|JBTS3

    an autosomal recessive subtype of joubert syndrome caused by mutation(s) in the ahi1 gene, encoding jouberin.

  • Joubert Syndrome 4

    a rare genetic syndrome caused by mutations in the nphp1 gene. it is characterized by the hypoplasia or absence of the cerebellar vermis. signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.

  • Joubert Syndrome 7|JBTS7

    an autosomal recessive sub-type of joubert syndrome caused by mutation(s) in the rpgrip1l gene, encoding a protein thought to function in programmed cell death. it is characterized by cerebellar and oculomotor apraxia, hypotonia and psychomotor delay, neonatal respiratory abnormalities, renal abnormalities, and retinal dystrophy.

  • Joubert Syndrome 9|JBTS9

    an autosomal recessive subtype of joubert syndrome caused by mutation(s) in the cc2d2a gene, encoding coiled-coil and c2 domain-containing protein 2a.

  • Codas Syndrome

    a rare syndrome caused by mutations in the lonp1 gene. it is characterized by developmental delay, cerebral, ocular, dental, auricular, and skeletal abnormalities.

  • Obstructive Sleep Apnea Syndrome

    a disorder characterized by recurrent episodic disruptions of breathing during sleep. it is caused by the intermittent relaxation of pharyngeal muscles leading to the narrowing or complete blockage of the upper airway. this results in compensatory arousal from sleep to breathe again. an anatomically narrow airway from body habitus or enlarged pharyngeal structures may also predispose to obstruction. clinical presentation usually includes snoring, daytime sleepiness, difficulty concentrating and fatigue. clinical course may progress to chronic hypoxemia with cardiovascular and cerebrovascular sequelae.

  • Lanugo

    fine downy hair that covers the body of a human fetus beginning in the fifth month of gestation; it is usually shed by the ninth month of gestation.

Patient EducationClinical

Craniofacial Abnormalities

Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft lip and palate, are among the most common of all birth defects. Others are very rare. Most of them affect how a person's face or head looks.

Read the full article at MedlinePlus

Courtesy of MedlinePlus, a service of the U.S. National Library of Medicine.

Convert Q87.0 to ICD-9-CMHistory

The closest ICD-9-CM equivalents under the General Equivalence Mappings.

ICD-9-CM
755.55 Acrocephalosyndactyly
Approximate The match is approximate rather than exact.
ICD-9-CM
756.0 Anomal skull/face bones
Approximate The match is approximate rather than exact.

Code HistoryHistory

FY 2016AddedAdded to the ICD-10-CM code setEffective October 1, 2015, the first year of ICD-10-CM.
FY 2017–2025No changes
FY 2026CurrentCurrent code set, no changesEffective October 1, 2025 through September 30, 2026.

Questions About Q87.0Overview

Is Q87.0 a billable code?

Yes. This is a billable ICD-10-CM code, specific enough to report congenital malformation syndromes predominantly affecting facial appearance on HIPAA-covered claims from October 1, 2025 through September 30, 2026.

What MS-DRG does Q87.0 group to?

When congenital malformation syndromes predominantly affecting facial appearance is the principal diagnosis on an inpatient stay, it groups to MS-DRG 564, 565, 566, with relative weights from 0.7493 to 1.5436 depending on complications. Higher weights mean higher Medicare reimbursement.

Is Q87.0 exempt from POA reporting?

Yes. CMS lists this code among those exempt from present on admission reporting, so hospitals do not assign a POA indicator for congenital malformation syndromes predominantly affecting facial appearance on inpatient claims.

What is the ICD-9 equivalent of Q87.0?

Under the General Equivalence Mappings, congenital malformation syndromes predominantly affecting facial appearance converts to ICD-9-CM 755.55 (acrocephalosyndactyly) and 756.0 (anomal skull/face bones). The mapping is approximate, so confirm the match fits the documentation.

Footnotes

[1] Chronic - a chronic condition code indicates a condition lasting 12 months or longer and its effect on the patient based on one or both of the following criteria:

  • The condition results in the need for ongoing intervention with medical products,treatment, services, and special equipment
  • The condition places limitations on self-care, independent living, and social interactions.