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Acromesomelic dysplasia 2B(DUPANS; AMD2B)

MedGen UID:: 346432
•Concept ID:: C1856738
•: Disease or Syndrome

Synonyms:	Du pan syndrome; Fibular hypoplasia and complex brachydactyly
SNOMED CT:	Aplasia of fibula co-occurrent with complex brachydactyly (715474004); Fibular aplasia and complex brachydactyly (715474004); Du Pan syndrome (715474004)
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:0009231
OMIM®:	228900
Orphanet:	ORPHA2639

Definition

Acromesomelic dysplasia-2B (AMD2B) is characterized by normal head and trunk, hypoplastic/dysplastic or absent fibulae, and severe hypoplastic/dysplastic hand/feet abnormalities. Mental development is normal (summary by Szczaluba et al., 2005). [from OMIM]

Clinical features

From HPO

Brachydactyly

MedGen UID:: 67454
•Concept ID:: C0221357
•: Congenital Abnormality

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.

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Talipes equinovalgus

MedGen UID:: 78567
•Concept ID:: C0265642
•: Congenital Abnormality

A deformity of foot and ankle in which the foot is bent down and outwards.

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Short phalanx of finger

MedGen UID:: 163753
•Concept ID:: C0877165
•: Finding

Short (hypoplastic) phalanx of finger, affecting one or more phalanges.

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Fibular hypoplasia

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

Underdevelopment of the fibula.

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Fibular aplasia

MedGen UID:: 373034
•Concept ID:: C1836186
•: Finding

Absence of the fibula.

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Short metacarpal

MedGen UID:: 323064
•Concept ID:: C1837084
•: Anatomical Abnormality

Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.

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Short metatarsal

MedGen UID:: 341358
•Concept ID:: C1849020
•: Finding

Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.

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Malaligned carpal bone

MedGen UID:: 383975
•Concept ID:: C1856742
•: Finding

Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna).

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Deformed tarsal bones

MedGen UID:: 347291
•Concept ID:: C1856746
•: Finding

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Rhizomelia

MedGen UID:: 357122
•Concept ID:: C1866730
•: Congenital Abnormality

Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).

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Absent toe

MedGen UID:: 766668
•Concept ID:: C3553754
•: Finding

Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.

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Deviation of finger

MedGen UID:: 1680949
•Concept ID:: C4759671
•: Anatomical Abnormality

Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges.

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Patellar dislocation

MedGen UID:: 253896
•Concept ID:: C1135812
•: Injury or Poisoning

The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.

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Small nail