Aplasia/Hypoplasia involving the carpal bones

MedGen UID:: 870584
•Concept ID:: C4025033
•: Finding

Synonyms:	Absent/small wrist bones; Absent/underdeveloped wrist bones

HPO:	HP:0006502

Definition

Absence or underdevelopment of the carpal bones. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAplasia/Hypoplasia involving the carpal bones

Phenotypic abnormality
- Abnormality of limbs
  - Aplasia/hypoplasia of the extremities
    - Aplasia/hypoplasia involving bones of the extremities
      - Aplasia/hypoplasia involving bones of the upper limbs
        Aplasia/hypoplasia involving bones of the hand
        Aplasia/Hypoplasia involving the carpal bones
        Carpal bone aplasia
        Absent scaphoid
        Carpal bone hypoplasia

Conditions with this feature

Schinzel phocomelia syndrome

MedGen UID:: 336388
•Concept ID:: C1848651
•: Disease or Syndrome

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).

See: Condition Record

Schinzel phocomelia syndrome

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Aplasia/Hypoplasia involving the carpal bones

Definition

Term Hierarchy

Conditions with this feature

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