Angel-shaped phalango-epiphyseal dysplasia(ASPED)

MedGen UID:: 366028
•Concept ID:: C1739384
•: 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: 141047 •Concept ID: C0443147 • 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. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0007114
OMIM®:	105835
Orphanet:	ORPHA63442

Definition

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:: 374771
•Concept ID:: C1841684
•: Finding

Ossification of carpal bones occurs later than age-adjusted norms.

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Metacarpal pseudoepiphysis

MedGen UID:: 349766
•Concept ID:: C1860253
•: Finding

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.

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Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

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).

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Osteoarthritis, hip

MedGen UID:: 14530
•Concept ID:: C0029410
•: Disease or Syndrome

Osteoarthritis of the hip joint.

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Premature osteoarthritis

MedGen UID:: 371977
•Concept ID:: C1835121
•: Disease or Syndrome

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Hyperextensibility of the finger joints

MedGen UID:: 334982
•Concept ID:: C1844577
•: Finding

The ability of the finger joints to move beyond their normal range of motion.

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Abnormality of limbs
- Delayed ossification of carpal bones
- Metacarpal pseudoepiphysis
Abnormality of the musculoskeletal system
Growth abnormality
- Short stature

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAngel-shaped phalango-epiphyseal dysplasia

Acromelic dysplasia
- Angel-shaped phalango-epiphyseal dysplasia

Recent clinical studies

Diagnosis

A novel mutation in CDMP1 causes brachydactyly type C with "angel-shaped phalanx". A genotype-phenotype correlation in the mutational spectrum.

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

Uncombable hair syndrome with angel-shaped phalango-epiphyseal dysplasia.

Fritz TM, Trüeb RM
Pediatr Dermatol 2000 Jan-Feb;17(1):21-4. doi: 10.1046/j.1525-1470.2000.01704.x. PMID: 10720982

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