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Finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome

MedGen UID:
1673147
Concept ID:
C5190599
Disease or Syndrome
Synonyms: finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome; Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome; Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
SNOMED CT: Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome (782758009)
 
Monarch Initiative: MONDO:0018249
Orphanet: ORPHA369979

Definition

Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome is a rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFinger hyperphalangy - toe anomalies - severe pectus excavatum syndrome

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