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Aplasia/Hypoplasia of the hallux

MedGen UID:
373036
Concept ID:
C1836213
Finding
Synonyms: Aplasia/hypoplasia of halluces; Aplastic/hypoplastic halluces
 
HPO: HP:0008362

Definition

Absence or underdevelopment of the big toe. [from HPO]

Conditions with this feature

Mesoaxial synostotic syndactyly with phalangeal reduction
MedGen UID:
324459
Concept ID:
C1836206
Disease or Syndrome
Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) represents a distinctive combination of clinical features that includes mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes (Malik et al., 2014).
Yunis-Varon syndrome
MedGen UID:
341818
Concept ID:
C1857663
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).
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
MedGen UID:
355340
Concept ID:
C1864965
Disease or Syndrome

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