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Bilateral coxa valga

MedGen UID:
Concept ID:
Anatomical Abnormality; Finding
Synonym: Coxa valga, bilateral
HPO: HP:0010665


The presence of bilateral coxa valga. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBilateral coxa valga

Conditions with this feature

MedGen UID:
Concept ID:
Disease or Syndrome
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
COG8-congenital disorder of glycosylation
MedGen UID:
Concept ID:
Disease or Syndrome
Syndrome with characteristics of severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. So far, only two cases have been described. The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus.
Rienhoff syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Neurodevelopmental disorder with spasticity and poor growth
MedGen UID:
Concept ID:
Disease or Syndrome
Trichohepatoneurodevelopmental syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Trichohepatoneurodevelopmental syndrome is a complex multisystem disorder characterized by woolly or coarse hair, liver dysfunction, pruritus, dysmorphic features, hypotonia, and severe global developmental delay (Morimoto et al., 2018).
Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities (NEDSMB) is an autosomal recessive disorder characterized by global developmental delay and severely impaired intellectual development with aggressive behavior. Mild dysmorphic features and hypodontia are also present (Faqeih et al., 2023).

Recent clinical studies


Stoll C, Alembik Y
Genet Couns 1994;5(1):61-6. PMID: 8031537


Oh CH, Lee CH, Kim SY, Lee SY, Jun HH, Lee S
BMC Pediatr 2020 Aug 19;20(1):391. doi: 10.1186/s12887-020-02288-2. PMID: 32814550Free PMC Article
Balobaid A, Ben-Omran T, Ramzan K, Altassan R, Almureikhi M, Musa S, Al-Hashmi N, Al-Owain M, Al-Zaidan H, Al-Hassnan Z, Imtiaz F, Al-Sayed M
Am J Med Genet A 2018 Dec;176(12):2850-2857. Epub 2018 Oct 22 doi: 10.1002/ajmg.a.40627. PMID: 30345601
Amiraian DE, Sarwar Z, Bireley WR 2nd, Moran E
Skeletal Radiol 2017 Sep;46(9):1261-1265. Epub 2017 Apr 28 doi: 10.1007/s00256-017-2654-1. PMID: 28455719
Lukusa T, Smeets E, Vermeesch JR, Fryns JP
Genet Couns 2002;13(4):417-25. PMID: 12558112
Stoll C, Alembik Y
Genet Couns 1994;5(1):61-6. PMID: 8031537


Stoll C, Alembik Y
Genet Couns 1994;5(1):61-6. PMID: 8031537

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