2024 ICD-10-CM Diagnosis Code Q87.0

Approximate Synonyms

The following clinical terms are approximate synonyms or lay terms that might be used to identify the correct diagnosis 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 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
• Ambiguous genitalia
• Anal atresia
• Aneurysm osteoarthritis syndrome
• Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome
• Arachnodactyly
• Arachnodactyly
• Arachnodactyly and intellectual disability with facial dysmorphism syndrome
• Asymmetry of mandible
• Auriculo-condylar syndrome
• Autism and facial port-wine stain 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
• 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
• 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 atrophy of optic nerve
• Congenital bowing of long bone
• Congenital cleft nose
• Congenital conductive hearing loss
• Congenital corneal dystrophy
• Congenital corneal dystrophy
• Congenital cubitus valgus
• Congenital deformity of bone of forearm
• Congenital diaphragmatic hernia
• Congenital dislocation of left hip
• Congenital dislocation of right hip
• Congenital disorder of facial nerve
• Congenital disorder of facial nerve
• Congenital disorder of facial nerve
• Congenital facial asymmetry
• Congenital facial nerve palsy
• Congenital facial nerve palsy
• Congenital facial nerve palsy
• Congenital hydronephrosis
• 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
• Craniofaciofrontodigital syndrome
• Craniofrontonasal dysplasia
• Craniomicromelic syndrome
• Cryptophthalmos syndrome
• Cyclops
• Cyclops hypognathus
• Cyprus facial neuromusculoskeletal syndrome
• Dandy-Walker syndrome
• Dandy-Walker 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
• Developmental malformation of branchial arch
• Dextrotransposition of aorta
• Diencephalic mesencephalic junction dysplasia
• Dislocation of hip and facial dysmorphism syndrome
• Dobrow 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
• Elbow joint deformity
• Emery Nelson syndrome
• Epiphyseal dysplasia, hearing loss, dysmorphism syndrome
• Expressive dysphasia
• Facial asymmetry
• 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, 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 sequence
• Frontonasal dysplasia sequence
• Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome
• Fryns macrocephaly
• Fryns Smeets Thiry syndrome
• Fryns syndrome
• Gabriele-de Vries syndrome
• 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
• Hemifacial microsomia
• Hip pathological dislocation
• Holzgreve syndrome
• 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
• Klippel-Feil sequence
• Koolen De Vries syndrome
• Lamb Shaffer syndrome
• 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
• McDonough syndrome
• Megalocornea
• Mehes syndrome
• Melnick-Fraser syndrome
• Menke Hennekam syndrome
• Metopic ridging, ptosis, facial dysmorphism 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
• Obstructive sleep apnea syndrome
• 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
• Okamoto 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
• Oromandibular-limb hypogenesis spectrum
• Otocephalic syndrome
• Otofaciocervical syndrome
• Otopalatodigital syndrome spectrum disorder
• 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 left hip
• PDE4D haploinsufficiency syndrome
• Pelviscapular dysplasia
• Peripheral axonal neuropathy
• Perlman syndrome
• Pierpont syndrome
• Pierre Robin sequence faciodigital anomaly syndrome
• Pilotto syndrome
• Plagiocephaly
• Poliosis
• Port-wine stain of skin
• 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
• Ramos Arroyo syndrome
• Renal agenesis
• RIDDLE syndrome
• Right aortic arch
• Robin sequence
• Robin sequence
• Robin sequence
• Robin sequence
• Robin sequence
• Robin sequence
• 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
• Sleep apnea
• Sonoda syndrome
• Speech delay
• 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
• 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
• 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

Clinical Information

• Microstomia

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

• Facial Asymmetry

  congenital or acquired asymmetry of the face.

• 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)

• 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.

• 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.

Q87.0 is grouped with Diagnostic Related Groups - MS-DRG Mapping

Diagnostic Related Groups (DRGs) are a classification system used to group together diagnosis codes for the purpose of reimbursement and healthcare management. DRGs are used to standardize the way hospitals and other providers are paid for inpatient services. In this system patients are grouped together based on their principal diagnosis in areas referred to as Major Diagnostic Categories (MDC). Once a patient is assigned a particular diagnostic category, providers receive a predetermined payment rate for the services rendered. This reimbursement rate is often fixed and is meant to cover the cost of care for that patient. Reimbursement is also affected by the relative weight of a diagnostic related group based on the severity of a patient's illness and the associated cost of care during hospitalization.

Diagnostic related groups encourage healthcare providers to focus on quality and efficiency in patient care while managing costs effectively. The diagnosis code is present in the following groups for version MS-DRG V41.0 applicable from 10/01/2023 through 09/30/2024.

The relative weight of a diagnostic related group determines the reimbursement rate based on the severity of a patient's illness and the associated cost of care during hospitalization.

Present on Admission (POA)

Q87.0 is exempt from POA reporting - The Present on Admission (POA) indicator is used for diagnosis codes included in claims involving inpatient admissions to general acute care hospitals. POA indicators must be reported to CMS on each claim to facilitate the grouping of diagnoses codes into the proper Diagnostic Related Groups (DRG). CMS publishes a listing of specific diagnosis codes that are exempt from the POA reporting requirement. Review other POA exempt codes here.

CMS POA Indicator Options and Definitions

Convert Q87.0 to ICD-9-CM

• ICD-9-CM Code: 755.55 - Acrocephalosyndactyly
  Approximate Flag - The approximate mapping means there is not an exact match between the ICD-10 and ICD-9 codes and the mapped code is not a precise representation of the original code.
• ICD-9-CM Code: 756.0 - Anomal skull/face bones
  Approximate Flag - The approximate mapping means there is not an exact match between the ICD-10 and ICD-9 codes and the mapped code is not a precise representation of the original code.

Patient Education

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. These conditions may also affect other parts of the body.

Treatment depends on the type of problem. Plastic and reconstructive surgery may help the person's appearance.

Code History

• FY 2024 - No Change, effective from 10/1/2023 through 9/30/2024
• FY 2023 - No Change, effective from 10/1/2022 through 9/30/2023
• FY 2022 - No Change, effective from 10/1/2021 through 9/30/2022
• FY 2021 - No Change, effective from 10/1/2020 through 9/30/2021
• FY 2020 - No Change, effective from 10/1/2019 through 9/30/2020
• FY 2019 - No Change, effective from 10/1/2018 through 9/30/2019
• FY 2018 - No Change, effective from 10/1/2017 through 9/30/2018
• FY 2017 - No Change, effective from 10/1/2016 through 9/30/2017
• FY 2016 - New Code, effective from 10/1/2015 through 9/30/2016. This was the first year ICD-10-CM was implemented into the HIPAA code set.