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Aplasia/hypoplasia of the extremities

MedGen UID:
1635318
Concept ID:
C4551464
Congenital Abnormality
Synonyms: Absent/small extremities; Absent/underdeveloped extremities; Short or absent limbs; Shortened limbs
 
HPO: HP:0009815

Definition

Absence (due to failure to form) or underdevelopment of the extremities. [from HPO]

Conditions with this feature

Hypochondroplasia
MedGen UID:
98376
Concept ID:
C0410529
Congenital Abnormality
Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; and macrocephaly. Radiologic features include shortening of long bones with mild metaphyseal flare; narrowing of the inferior lumbar interpedicular distances; short, broad femoral neck; and squared, shortened ilia. The skeletal features are very similar to those seen in achondroplasia but tend to be milder. Medical complications common to achondroplasia (e.g., spinal stenosis, tibial bowing, obstructive apnea) occur less frequently in hypochondroplasia but intellectual disability and epilepsy may be more prevalent. Children usually present as toddlers or at early school age with decreased growth velocity leading to short stature and limb disproportion. Other features also become more prominent over time.
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).

Professional guidelines

PubMed

Moon DK, Gurnett CA, Aferol H, Siegel MJ, Commean PK, Dobbs MB
J Bone Joint Surg Am 2014 Aug 6;96(15):1249-1256. doi: 10.2106/JBJS.M.01257. PMID: 25100771Free PMC Article

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