Al-Awadi-Raas-Rothschild syndrome

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Classification according to ICD-10
Q87.2 Congenital malformation syndromes with predominant involvement of the extremities
ICD-10 online (WHO version 2019)

The Al-Awadi-Raas-Rothschild syndrome (AARRS) is a very rare congenital disease with the main features Phokomelie , hypo- or aplasia of limbs and pelvis .

Synonyms are: Raas-Rothschild syndrome; Phocomelia type Schinzel; Schinzel Phocomelia Syndrome; Limb / pelvic hypoplasia / aplasia syndrome; English Limb / Pelvis-Hypoplasia / Aplasia Syndrome; LPHAS

The names refer to the first authors of the first description from 1985 by the Kuwaiti doctors Sadika A. Al-Awadi, Ahmad S. Teebi, Talaat I. Farag and Mohammed Y. El-Khalifa, to the first author of a description from 1988 by the Israeli human geneticist A. Raas-Rothschild and co-workers and to the author of a report from 1990 by the Austrian human geneticist Albert Schinzel .

distribution

The frequency is not known, the inheritance is done autosomal - recessive .

root cause

Of the disease are at least partially mutations in Wnt7a - gene on chromosome 3 locus p25.1 basis.

The syndrome can be viewed as an allele of Fuhrmann syndrome .

Clinical manifestations

Clinical criteria are:

  • Skeletal malformations of the ulna , pelvis, fibula and femur
  • Reduction malformation of the limbs (phocomelia, possibly with poly- , oligo- or ectrodactyly )
  • Hypo- or aplasia of the pelvic bones including the coccyx
  • Skull bone defects, often on the occiput

In addition, there can be thoracic dystrophy, facial dysmorphism and malformations of the urinary and sexual apparatus .

diagnosis

The malformations can already be detected prenatally by means of fine ultrasound . Sometimes the affected children die shortly after birth.

literature

  • PN Kantaputra, S. Kapoor, P. Verma, M. Kaewgahya, K. Kawasaki, A. Ohazama, JR Ketudat Cairns: Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation. In: European journal of medical genetics. Vol. 60, No. 12, December 2017, pp. 695-700, doi: 10.1016 / j.ejmg.2017.09.005 , PMID 28917830 .
  • MM Al-Qattan: Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb / pelvis / uterus-hypoplasia / aplasia) syndrome (AARRS) and Fuhrmann syndrome. In: American journal of medical genetics. Part A. Vol. 161A, No. 9, September 2013, pp. 2274-2280, doi: 10.1002 / ajmg.a.35437 , PMID 23922166 (review).
  • F. Lonardo, G. Sabba, DV Luquetti, MD Monica, G. Scarano: Al-Awadi / Raas-Rothschild syndrome: two new cases and review. In: American journal of medical genetics. Part A. Vol. 143A, No. 24, December 2007, pp. 3169-3174, doi: 10.1002 / ajmg.a.31712 , PMID 17431918 .
  • MM Al-Qattan, HE Shamseldin, FS Alkuraya: The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes. In: Genes. Vol. 516, No. 1, March 2013, pp. 168–170, doi: 10.1016 / j.gene.2012.12.020 , PMID 23266637 .

Individual evidence

  1. ↑ a b c d Schinzel type phocomelia. In: Orphanet (Rare Disease Database).
  2. ↑ SA Al-Awadi, AS Teebi, TI Farag, KM Naguib, MY el-Khalifa: Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome. In: Journal of medical genetics. Vol. 22, No. 1, February 1985, pp. 36-38, PMID 3981578 , PMC 1049375 (free full text),
  3. ^ A. Raas-Rothschild, RM Goodman, S. Meyer, MB Katznelson, ST Winter, E. Gross, M. Tamarkin, T. Ben-Ami, L. Nebel, S. Mashiach: Pathological features and prenatal diagnosis in the newly recognized limb / pelvis-hypoplasia / aplasia syndrome. In: Journal of medical genetics. Vol. 25, No. 10, October 1988, pp. 687-697, PMID 3066902 , PMC 1051563 (free full text) (review).
  4. ↑ A. Schinzel: Phocomelia and additional anomalies in two sisters. In: Human genetics. Vol. 84, No. 6, May 1990, pp. 539-541, PMID 2338339 .
  5. ↑ Ulna and fibula, absence of, with severe limb deficiency.  In: Online Mendelian Inheritance in Man . (English)

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