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Aplasia/Hypoplasia of the distal phalanges of the hand

MedGen UID:
Concept ID:
Synonyms: Aplastic/hypoplastic distal phalanges; Hypoplastic/aplastic distal phalanges; Hypoplastic/aplastic distal phalanx; Small or absent distal phalanges
HPO: HP:0009835


Absence or underdevelopment of the distal phalanges. [from HPO]

Conditions with this feature

Yunis-Varon syndrome
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Disease or Syndrome
Yunis-Varon syndrome (YVS) is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).
Brachydactyly type B1
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Concept ID:
Congenital Abnormality
A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less severely affected than the hands.
Brachydactyly type B2
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Concept ID:
Disease or Syndrome
Brachydactyly type B2 (BDB2) is a subtype of brachydactyly characterized by hypoplasia/aplasia of distal phalanges in combination with distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly (summary by Lehmann et al., 2007).

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