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Articles » Skeletal » Acromesomelic dysplasia

1999-05-16-21 Acromesomelic dysplasia © Jeanty

Acromesomelic dysplasia

Philippe Jeanty, MD, PhD & Sandra R Silva, MD

Definition: Non lethal short stature and short limbs dysplasia that, as implied by the name, affects the forearms, hands, and feet. The radius is bowed. The wrist bones and phalanges are particularly short and square[1],[2],[3],[4].

Synonyms: None

Incidence: Rare

Etiology: Autosomal recessive for the regular[5] and the severe form of acromesomelic dysplasia (Hunter-Thompson type (AMDH)[6] which is due to a different cartilage-derived morphogenetic protein (CDMP)[7],[8].

Diagnosis: The diagnosis is suggested by the finding for abnormal forearms and lower legs and abnormal hands and feet. The rest of the skeleton is not affected

Genetic anomalies: Acromesomelic dysplasia is caused by mutation in cartilage-derived morphogenetic protein-1 (CDMP-1) on chromosome 20.

Differential diagnosis: Mesomelic dwarfism, Grebe chondrodysplasia (only in a specific group of patient from a certain region of Brazil), Nager syndrome (but these have micrognathia).

Prognosis: Intellectual development has been reported normal, and the orthopedic handicap is the major concern in these children3,[9].

Management: Termination of pregnancy can be offered before viability. Standard prenatal care is not altered when continuation the pregnancy is opted for. Confirmation of diagnosis after birth is important for genetic counseling.


[1] Ferraz FG, Maroteaux P, Sousa JP, Alves T, Dias I, Ferraz E, Marques M, Santos L Acromesomelic dwarfism: a new variation. J Pediatr Orthop B 1997 Jan;6(1):27-32

[2] Campailla E, Maroteaux P Acromesomelic dwarfism: Maroteaux-Martinelli-Campailla type. Basic Life Sci 1988;48:177-8

[3] Stichelbout P, Pratz R, Lemaitre G, Wemeau-Jacquemont C, Maroteaux P, Fontaine G: Acromesomelic dysplasia. Apropos of a new case. Arch Fr Pediatr 1984 Aug-Sep;41(7):487-9

[4] Hall CM, Stoker DJ, Robinson DC, Wilkinson DJ Acromesomelic dwarfism. Br J Radiol 1980 Oct;53(634):999-1003

[5] Langer LO Jr, Beals RK, Solomon IL, Bard PA, Bard LA, Rissman EM, Rogers JG, Dorst JP, Hall JG, Sparkes RS, Franken EA Jr Acromesomelic dwarfism: manifestations in childhood. Am J Med Genet 1977;1(1):87-100

[6] Hunter AG, Thompson MW Acromesomelic dwarfism: description of a patient and comparison with previously reported cases. Hum Genet 1976 Sep 10;34(1):107-13

[7] Danda S, Phadke SR, Agarwal SS: Acromesomelic dwarfism: report of a family with two affected siblings. Indian Pediatr 1997 Dec;34(12):1127-30

[8] Borrelli P, Fasanelli S, Marini R: Acromesomelic dwarfism in a child with an interesting family history. Pediatr Radiol 1983;13(3):165-8

[9] Pallister PD A 59-year-old multiparous woman with acromesomelic dwarfism. Am J Med Genet 1978;1(3):343-6

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