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Items: 3

1.

Tibia, hypoplasia or aplasia of, with polydactyly

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones. [from ORDO]

MedGen UID:
348786
Concept ID:
C1861098
Disease or Syndrome
2.

Laurin-Sandrow syndrome

Laurin-Sandrow syndrome (LSS) is an autosomal dominant disorder characterized by polysyndactyly of hands and feet, mirror image duplication of feet, and nasal defects (hypoplastic alae nasi, short columella), in connection with absent patella and duplicated fibula (summary by Lohan et al., 2014). [from OMIM]

MedGen UID:
340697
Concept ID:
C1851100
Disease or Syndrome
3.

Fibular duplication

Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition. [from HPO]

MedGen UID:
478372
Concept ID:
C3276742
Finding
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