Acromesomelic dysplasia 2C, Hunter-Thompson type(AMDH ACROMESOMELIC DWARFISM; AMD2C)

MedGen UID:: 419681
•Concept ID:: C2930970
•: Disease or Syndrome

Synonyms:	Acromesomelic dwarfism; Acromesomelic dysplasia, Hunter-Thompson type
SNOMED CT:	Hunter-Thompson dysplasia (389167007); Acromesomelic dysplasia Hunter-Thompson type (389167007)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	GDF5 (20q11.22)

Monarch Initiative:	MONDO:0008717
OMIM®:	201250
Orphanet:	ORPHA968

Definition

Acromesomelic dysplasia-2C (AMD2C) is characterized by skeletal abnormalities restricted to the limbs; the craniofacial skeleton and axial skeletal structures are normal. The severity of the long bone shortening progresses in a proximal to distal direction. The hands and feet are most severely affected, but the distal phalanges are relative normal. Affected individuals have joint dislocations but the number of joints involved is not constant (summary by Thomas et al., 1996). For a discussion of genetic heterogeneity of acromesomelic dysplasia, see AMD1 (602875). [from OMIM]

Clinical features

From HPO

Single transverse palmar crease

MedGen UID:: 96108
•Concept ID:: C0424731
•: Finding

The distal and proximal transverse palmar creases are merged into a single transverse palmar crease.

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Short thumb

MedGen UID:: 98469
•Concept ID:: C0431890
•: Congenital Abnormality

Hypoplasia (congenital reduction in size) of the thumb.

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Hypoplasia of the radius

MedGen UID:: 672334
•Concept ID:: C0685381
•: Congenital Abnormality

Underdevelopment of the radius.

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Fibular hypoplasia

MedGen UID:: 316909
•Concept ID:: C1832119
•: Finding

Underdevelopment of the fibula.

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Short foot

MedGen UID:: 376415
•Concept ID:: C1848673
•: Finding

A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).

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Short tibia