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Pectoral muscle hypoplasia/aplasia

MedGen UID:
870769
Concept ID:
C4025226
Anatomical Abnormality
Synonyms: Small/absent pec muscle; Underdeveloped/absent pec muscle
 
HPO: HP:0005258

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPectoral muscle hypoplasia/aplasia

Conditions with this feature

Frontorhiny
MedGen UID:
1803615
Concept ID:
C5574965
Congenital Abnormality
A distinct syndromic type of frontonasal malformation with characteristics of hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears.

Recent clinical studies

Etiology

Baban A, Torre M, Costanzo S, Gimelli S, Bianca S, Divizia MT, Sénès FM, Garavelli L, Rivieri F, Lerone M, Valle M, Ravazzolo R, Calevo MG
Am J Med Genet A 2012 Jan;158A(1):140-9. Epub 2011 Nov 22 doi: 10.1002/ajmg.a.34370. PMID: 22110015

Diagnosis

Baban A, Torre M, Costanzo S, Gimelli S, Bianca S, Divizia MT, Sénès FM, Garavelli L, Rivieri F, Lerone M, Valle M, Ravazzolo R, Calevo MG
Am J Med Genet A 2012 Jan;158A(1):140-9. Epub 2011 Nov 22 doi: 10.1002/ajmg.a.34370. PMID: 22110015
Baban A, Torre M, Bianca S, Buluggiu A, Rossello MI, Calevo MG, Valle M, Ravazzolo R, Jasonni V, Lerone M
Am J Med Genet A 2009 Jul;149A(7):1597-602. doi: 10.1002/ajmg.a.32922. PMID: 19533787

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