Split-hand/foot malformation with long bone deficiency 1- MedGen UID:
- 349310
- •Concept ID:
- C1861553
- •
- Disease or Syndrome
Ulnar-mammary syndrome- MedGen UID:
- 357886
- •Concept ID:
- C1866994
- •
- Disease or Syndrome
Ulnar-mammary syndrome (UMS) is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).
Endove syndrome, limb-brain type- MedGen UID:
- 1782954
- •Concept ID:
- C5543142
- •
- Disease or Syndrome
Limb-brain ENDOVE syndrome (ENDOVESLB) is characterized by marked mesomelic shortening of the lower limbs due to severe hypoplasia of the tibia and fibula. The talus is absent and foot bones are rudimentary. Hands show short and malformed fingers with a missing digit, and nails are absent on some fingers. In addition, there is cerebellar aplasia with hypoplasia of the brainstem (Allou et al., 2021).