GAPO syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The GNPO syndrome , acronym for G rowth retardation ( growth retardation ), A lopezie , P seudoanodontie (absence of breakthrough dental equipment) and O ptikusatrophie , is a very rare congenital disease .

The first description was in 1984 by RE Tipton and Robert James Gorlin (1923-2006).

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

root cause

The disease are mutations in ANTXR1 - gene in chromosome 2 at locus p13.3 basis.

Clinical manifestations

Clinical criteria are:

  • Significant growth retardation with retarded bone age
  • Alopecia, pronounced hypotrichosis
  • Pseudoanodontics
  • Optic atrophy progressing from infancy
  • Facial abnormalities with a high forehead, midface dysplasia, hypertelorism , protruding eyes, microgenius , sunken nasal roots, large fontanels that remain open for a long time

The following are also found frequently: Excess, increasingly folded skin with a pre-aged appearance, umbilical hernia , hyperextensible joints , abnormally increased intracranial pressure

Differential diagnosis

Must be distinguished is the progeria .

literature

  • B. Zeydan, G. Benbir, D. Uluduz, B. Ince, B. Goksan, C. Islak: Arterial and venous thrombosis of the cerebral vasculature in GAPO syndrome. In: American Journal of Medical Genetics. Part A. Vol. 164A, No. 5, May 2014, pp. 1284-1288, doi: 10.1002 / ajmg.a.36440 , PMID 24664815 .
  • N. Goyal, H. Gurjar, BS Sharma, M. Tripathi, PS Chandra: GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension. In: BMJ Case Reports. Vol. 2014, 2014, S., doi: 10.1136 / bcr-2013-201727 , PMID 24473423 , PMC 3912429 (free full text).
  • B. Bozkurt, MS Yildirim, M. Okka, G. Bitirgen: GAPO syndrome: four new patients with congenital glaucoma and myelinated retinal nerve fiber layer. In: American Journal of Medical Genetics. Part A. Vol. 161A, No. 4, April 2013, pp. 829-834, doi: 10.1002 / ajmg.a.35734 , PMID 23494824 .

Individual evidence

  1. ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ a b c Orphanet GAPO syndrome
  3. ^ RE Tipton, RJ Gorlin: Growth retardation, alopecia, pseudo-anodontia, and optic atrophy - the GAPO syndrome: report of a patient and review of the literature. In: American Journal of Medical Genetics. Vol. 19, No. 2, October 1984, pp. 209-216, doi: 10.1002 / ajmg.1320190202 , PMID 6507471 .
  4. ^ GAPO syndrome.  In: Online Mendelian Inheritance in Man . (English)

Web links