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Bilateral ulnar hypoplasia

MedGen UID:
870712
Concept ID:
C4025166
Finding
HPO: HP:0005648

Definition

Underdevelopment of the ulna on both sides. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBilateral ulnar hypoplasia

Conditions with this feature

Ulna hypoplasia-intellectual disability syndrome
MedGen UID:
341275
Concept ID:
C1848650
Disease or Syndrome
Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.
Autosomal recessive Robinow syndrome
MedGen UID:
1770070
Concept ID:
C5399974
Disease or Syndrome
ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood.

Recent clinical studies

Diagnosis

Patel C, Silcock L, McMullan D, Brueton L, Cox H
Eur J Hum Genet 2012 Aug;20(8):863-9. Epub 2012 Feb 15 doi: 10.1038/ejhg.2012.16. PMID: 22333898Free PMC Article
Kohn G, Malinger G, el Shawwa R, Scheinfeld A, Tepper R, Ornoy A, Lachman R, Rimoin DL
Am J Med Genet 1995 Mar 27;56(2):132-5. doi: 10.1002/ajmg.1320560203. PMID: 7625433

Prognosis

Kohn G, Malinger G, el Shawwa R, Scheinfeld A, Tepper R, Ornoy A, Lachman R, Rimoin DL
Am J Med Genet 1995 Mar 27;56(2):132-5. doi: 10.1002/ajmg.1320560203. PMID: 7625433

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