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Acromelia

MedGen UID:
869252
•Concept ID:
C4023675
•
Congenital Abnormality
HPO: HP:0010884

Definition

Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcromelia

Recent clinical studies

Etiology

A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.
Ullah A, Umair M, Muhammad D, Bilal M, Lee K, Leal SM, Ahmad W
Ann Hum Genet 2018 May;82(3):129-134. Epub 2018 Jan 10 doi: 10.1111/ahg.12233. PMID: 29322508Free PMC Article

Diagnosis

Acromicric dysplasia due to a novel missense mutation in the fibrillin 1 gene in a three-generation family.
Quitter F, Flury M, Waldmueller S, Schubert T, Koehler K, Huebner A
J Pediatr Endocrinol Metab 2022 Nov 25;35(11):1443-1447. Epub 2022 Aug 9 doi: 10.1515/jpem-2022-0287. PMID: 35942587
Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.
Elliott AM, Gonzales M, Hoeffel JC, Le Merrer M, Maroteaux P, Encha-Razavi F, Joye N, Berchel C, Fliegel C, Aughton DJ, Beaudry-Rodgers K, Hasteh F, Nerlich AG, Wilcox WR, Rimoin DL, Lachman RS, Freisinger P
Am J Med Genet 2002 Apr 22;109(2):139-48. doi: 10.1002/ajmg.10324. PMID: 11977163

Prognosis

Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features.
Hasegawa K, Numakura C, Tanaka H, Furujo M, Kubo T, Higuchi Y, Yamashita M, Tsukahara H
J Pediatr Endocrinol Metab 2017 Jan 1;30(1):117-121. doi: 10.1515/jpem-2016-0258. PMID: 27935852
Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.
Elliott AM, Gonzales M, Hoeffel JC, Le Merrer M, Maroteaux P, Encha-Razavi F, Joye N, Berchel C, Fliegel C, Aughton DJ, Beaudry-Rodgers K, Hasteh F, Nerlich AG, Wilcox WR, Rimoin DL, Lachman RS, Freisinger P
Am J Med Genet 2002 Apr 22;109(2):139-48. doi: 10.1002/ajmg.10324. PMID: 11977163

Clinical prediction guides

A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.
Ullah A, Umair M, Muhammad D, Bilal M, Lee K, Leal SM, Ahmad W
Ann Hum Genet 2018 May;82(3):129-134. Epub 2018 Jan 10 doi: 10.1111/ahg.12233. PMID: 29322508Free PMC Article

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