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Items: 5

1.

Hand foot uterus syndrome

Hand-foot-genital syndrome (HFGS) is characterized by limb malformations and urogenital defects. Mild bilateral shortening of the thumbs and great toes, caused primarily by shortening of the distal phalanx and/or the first metacarpal or metatarsal, is the most common limb malformation and results in impaired dexterity or apposition of the thumbs. Urogenital abnormalities include: abnormalities of the ureters and urethra and various degrees of incomplete Müllerian fusion in females; hypospadias of variable severity with or without chordee in males. Vesicoureteral reflux, recurrent urinary tract infections, and chronic pyelonephritis are common; fertility is normal. [from GeneReviews]

MedGen UID:
331103
Concept ID:
C1841679
Disease or Syndrome
2.

Acyl-CoA thioester hydrolase, long-chain, 1

MedGen UID:
351308
Concept ID:
C1865144
Amino Acid, Peptide, or Protein; Enzyme; Finding
3.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
4.

Mastocytosis cutaneous with short stature conductive hearing loss and microtia

MedGen UID:
383661
Concept ID:
C1855345
Disease or Syndrome
5.

Acrocephalosyndactyly type V

MedGen UID:
78551
Concept ID:
C0265303
Disease or Syndrome
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