Ulna and fibula, absence of, with severe limb deficiency

Preferred Label : Ulna and fibula, absence of, with severe limb deficiency;

CISMeF acronym : AARRS; LPHAS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Limb/pelvis-hypoplasia/aplasia syndrome; AARRS; Al-awadi/raas-rothschild syndrome; Schinzel phocomelia syndrome; LPHAS;

Description : The Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome (AARRS) is a rare autosomal recessive disorder characterized by severe malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. The disorder is believed to represent a defect of dorsoventral patterning and outgrowth of limbs (summary by Kantaputra et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the wingless-type MMTV integration site family, member 7A gene (WNT7A, 601570.0001);

Prefixed ID : #276820;

Details

Origin ID

276820;

UMLS CUI

C1848651;

Automatic exact mappings (from CISMeF team)
- Al Awadi syndrome [MeSH concept]
- virulence factors, bordetella [MeSH Descriptor]
Currated CISMeF NLP mapping
- Phocomelia Schinzel type (disorder) [SNOMED CT concept]
- Phocomelia, Schinzel type [ORDO Disease]
- al awadi syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Wingless-type mmtv integration site family, member 7a [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Anonychia [HPO term]
- Anteriorly displaced genitalia [HPO term]
- Aplasia of the ulna [HPO term]
- Aplasia of the uterus [HPO term]
- Aplasia/Hypoplasia involving the carpal bones [HPO term]
- Aplasia/Hypoplasia involving the metacarpal bones [HPO term]
- Aplasia/Hypoplasia of metatarsal bones [HPO term]
- Aplasia/Hypoplasia of the phalanges of the hand [HPO term]
- Aplasia/Hypoplasia of the phalanges of the toes [HPO term]
- Aplasia/Hypoplasia of the pubic bone [HPO term]
- Aplasia/Hypoplasia of the tarsal bones [HPO term]
- Aplasia/hypoplasia of the extremities [HPO term]
- Aplasia/hypoplasia of the femur [HPO term]
- Aplastic pubic bones [HPO term]
- Autosomal recessive inheritance [HPO term]
- Barrel-shaped chest [HPO term]
- Broad clavicles [HPO term]
- Broad neck [HPO term]
- Broad ribs [HPO term]
- Carpal bone aplasia [HPO term]
- Congenital pseudoarthrosis of the clavicle [HPO term]
- Cryptorchidism [HPO term]
- Decreased calvarial ossification [HPO term]
- Disproportionate short stature [HPO term]
- Elbow ankylosis [HPO term]
- Elbow flexion contracture [HPO term]
- Epicanthus [HPO term]
- Femoral bowing [HPO term]
- Fibular aplasia [HPO term]
- Foot oligodactyly [HPO term]
- Hand oligodactyly [HPO term]
- Hemivertebrae [HPO term]
- High palate [HPO term]
- Hip dislocation [HPO term]
- Humeroradial synostosis [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplastic feet [HPO term]
- Hypoplastic nipples [HPO term]
- Hypospadias [HPO term]
- Long ear [HPO term]
- Long face [HPO term]
- Low-set ears [HPO term]
- Narrow palate [HPO term]
- Occipital meningocele [HPO term]
- Pectus carinatum [HPO term]
- Phocomelia [HPO term]
- Pilonidal sinus [HPO term]
- Prominent sternum [HPO term]
- Radial bowing [HPO term]
- Short foot [HPO term]
- Short neck [HPO term]
- Small scrotum [HPO term]
- Split hand [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Phocomelia, Schinzel type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Al Awadi syndrome [MeSH concept]
- Phocomelia Schinzel type (disorder) [SNOMED CT concept]
- Phocomelia, Schinzel type [ORDO Disease]
- al awadi syndrome [MeSH Supplementary Concept]

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