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Angel-shaped phalango-epiphyseal dysplasia(ASPED)

MedGen UID:
Concept ID:
Congenital Abnormality
Synonym: Angel shaped phalangoepiphyseal dysplasia
SNOMED CT: Angel-shaped phalangoepiphyseal dysplasia (720984008); Angel-shaped phalango-epiphyseal dysplasia (720984008); ASPED - angel-shaped phalango-epiphyseal dysplasia (720984008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Monarch Initiative: MONDO:0007114
OMIM®: 105835
Orphanet: ORPHA63442


A form of acromelic dysplasia with the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits which all appear short), epiphyseal changes in the hips and in some, abnormal dentition and delayed bone age. A rare disease with less than 20 cases reported in the literature, however, it is likely under diagnosed. Caused by mutations in the growth differentiation factor 5 (GDF5) gene, located on chromosome 20q11.2, encoding CDMP1 (cartilage derived morphogenetic protein). CDMP1 belongs to the TGF beta super family and plays a role in bone growth and joint morphogenesis. Transmitted as an autosomal dominant condition. [from SNOMEDCT_US]

Clinical features

From HPO
Delayed ossification of carpal bones
MedGen UID:
Concept ID:
Ossification of carpal bones occurs later than age-adjusted norms.
Pseudoepiphyses of the metacarpals
MedGen UID:
Concept ID:
A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone.
Short stature
MedGen UID:
Concept ID:
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Osteoarthritis, hip
MedGen UID:
Concept ID:
Disease or Syndrome
Osteoarthritis of the hip joint.
Premature osteoarthritis
MedGen UID:
Concept ID:
Disease or Syndrome
Hyperextensibility of the finger joints
MedGen UID:
Concept ID:
The ability of the finger joints to move beyond their normal range of motion.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAngel-shaped phalango-epiphyseal dysplasia

Recent clinical studies


Gutiérrez-Amavizca BE, Brambila-Tapia AJ, Juárez-Vázquez CI, Holder-Espinasse M, Manouvrier-Hanu S, Escande F, Barros-Núñez P
Eur J Med Genet 2012 Nov;55(11):611-4. Epub 2012 Jul 22 doi: 10.1016/j.ejmg.2012.07.004. PMID: 22828468
Fritz TM, Trüeb RM
Pediatr Dermatol 2000 Jan-Feb;17(1):21-4. doi: 10.1046/j.1525-1470.2000.01704.x. PMID: 10720982

Clinical prediction guides

Fritz TM, Trüeb RM
Pediatr Dermatol 2000 Jan-Feb;17(1):21-4. doi: 10.1046/j.1525-1470.2000.01704.x. PMID: 10720982
Giedion A, Prader A, Fliegel C, Krasikov N, Langer L, Poznanski A
Am J Med Genet 1993 Oct 1;47(5):765-71. doi: 10.1002/ajmg.1320470534. PMID: 8267010

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