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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).
 
Gene (location): 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.
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.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Fibular hypoplasia
MedGen UID:
316909
Concept ID:
C1832119
Finding
Underdevelopment of the fibula.
Fibular aplasia
MedGen UID:
373034
Concept ID:
C1836186
Finding
Absence of the fibula.
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.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
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).
Deformed tarsal bones
MedGen UID:
347291
Concept ID:
C1856746
Finding
Rhizomelia
MedGen UID:
357122
Concept ID:
C1866730
Congenital Abnormality
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
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.
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.
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.
Small nail
MedGen UID:
537942
Concept ID:
C0263523
Finding
A nail that is diminished in length and width, i.e., underdeveloped nail.
Aplastic/hypoplastic toenail
MedGen UID:
347294
Concept ID:
C1856749
Finding
Absence or underdevelopment of the toenail.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcromesomelic dysplasia 2B
Follow this link to review classifications for Acromesomelic dysplasia 2B in Orphanet.

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