Pseudoaminopterin syndrome

Classification according to ICD-10
Q87.0	Other specified congenital malformation syndromes involving multiple systems
ICD-10 online (WHO version 2019)

The Pseudoaminopterin syndrome is a very rare congenital Embryopathie that the aminopterin syndrome is similar, but without previous exposure with aminopterin . The main characteristics are abnormal skulls, facial dysmorphisms , skeletal malformations, mental retardation and short stature .

Synonyms are: ASSA; Aminopterin-like syndrome is aminopterin

The first description comes from 1969 by J. Herrmann and JM Opitz.

distribution

The frequency is given as less than 1 in 1,000,000, so far about 10 people have been reported. Inheritance is - at least partially - autosomal - recessive .

root cause

The cause is not yet known.

Clinical manifestations

Clinical criteria are:

• Manifestation prenatally or as a newborn
• Craniosynostosis , insufficient ossification of the roof of the skull
• Facial abnormalities such as hypertelorism , abnormalities of the eyelid clefts, microgenius , cleft lip, small and deeply attached auricles
• Malformations of the fingers such as brachydactyly , syndactyly , clinodactyly
• mild to moderate intellectual deficit
• Short stature

literature

• N. Sobreira, M. Cernach, D. Batista, D. Brunoni, A. Perez: Pseudoaminopterin syndrome: clinical report with new characteristics. In: American journal of medical genetics. Part A. Vol. 149A, No. 12, December 2009, pp. 2843-2848, doi: 10.1002 / ajmg.a.33125 , PMID 19938091 .
• A. Verloes, G. Bricteux, L. Koulischer: Pseudoaminopterin syndrome. In: American journal of medical genetics. Vol. 46, No. 4, June 1993, pp. 394-397, doi: 10.1002 / ajmg.1320460410 , PMID 8357010 (review).

Individual evidence

1. ↑ ^{a b c} Pseudoaminopterin syndrome. In: Orphanet (Rare Disease Database).
2. ^ J. Herrmann, J. Opitz: An unusual form of acrocephalosyndactyly. In: Birth Defects Original Article Series V (3), pp. 39-42, 1969.
3. ↑ L. Kraoua, Y. Capri, L. Perrin, A. Benmansour, A. Verloes: Pseudoaminopterin syndrome. In: American journal of medical genetics. Part A. Vol. 158A, No. 9, September 2012, pp. 2233-2238, doi: 10.1002 / ajmg.a.35212 , PMID 22811276 .
4. ↑ ASSA.  In: Online Mendelian Inheritance in Man . (English)

Web links

• Rare Diseases

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !