LADD syndrome

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

The LADD syndrome , acronym for L akrimo ( lacrimation ) - A urikulo ( ear ) - D ento ( dental ) - D igital ( finger ) syndrome is a very rare congenital malformation of the eponymous body sections.

Synonyms are: Levy-Hollister syndrome; Lakrimo-auriculo-radio-dental syndrome; LARD syndrome

The first description comes from 1967 from South Africa by the doctor Walter J. Levy and from 1973 by the US doctors David W. Hollister et al.

The syndrome should not be confused with the bile plug syndrome , also known as Gross Ladd syndrome , or the congenital volvulus, also known as Ladd syndrome , and external obstruction of the small intestine.

distribution

The frequency is given as less than 1 in 1,000,000, so far more than 60 people have been reported. The inheritance is autosomal dominant .

root cause

Of the disease are mutations in FGFR3 - gene on chromosome 4 locus p16.3, in FGFR10 gene on chromosome 5 locus p12 or FGFR2 gene on chromosome 10 locus p26.13 based encoding receptors or a ligand for the fibroblasts -Code growth factor.

Mutations in the FGFR10 gene also lead to aplasia of the lacrimal and salivary glands , the ALSG syndrome

Clinical manifestations

Clinical criteria are: hypoplasia , aplasia , atresia or malformation in:

In addition, unilateral radial aplasia or radioulnar synostosis can occur, then as an acronym LARD with R for radius.

literature

  • A. Simpson, A. Avdic, BR Roos, A. DeLuca, K. Miller, MJ Schnieders, TE Scheetz, WL Alward, JH Fingert: LADD syndrome with glaucoma is caused by a novel gene. In: Molecular vision. Volume 23, 2017, pp. 179-184, PMID 28400699 , PMC 5373035 (free full text).
  • LT Lim, R. Blum, SN Chia, DS Ting, TE Lavy, GN Dutton: Lacrimal-auricular-dental-digital (LADD) syndrome with diffuse ophthalmoplegia - a new finding. In: Seminars in ophthalmology. Volume 27, number 3-4, 2012 May-Jul, pp. 59-60, doi : 10.3109 / 08820538.2012.680639 , PMID 22784266 .
  • Y. Guven, RO Rosti, EB Tuna, H. Kayserili, O. Aktoren : Orodental findings of a family with lacrimo-auriculo-dento digital (LADD) syndrome. In: Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics. Volume 106, number 6, December 2008, pp. E33 – e44, doi : 10.1016 / j.tripleo.2008.07.019 , PMID 18801668 .

Individual evidence

  1. ↑ a b c d Lakrimo-auriculo-dento-digital syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ a b 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 .
  3. ↑ WJ Levy: Mesoectodermal dysplasia. A new combination of anomalies. In: American journal of ophthalmology. Volume 63, Number 5, May 1967, pp. 978-982, PMID 6066655 .
  4. ^ DW Hollister, SH Klein, HJ De Jager, RS Lachman, DL Rimoin: The lacrimo-auriculo-dento-digital syndrome. In: The Journal of pediatrics. Volume 83, Number 3, September 1973, pp. 438-444, PMID 4725147 .
  5. ↑ Ladd-Gross syndrome
  6. ↑ WE Ladd and RE Gross: In: Abdominal surgery in infancy and childhood . Philadelphia, WB Saunders, 1941
  7. ^ Who named it Ladd's syndrome
  8. ^ WE Ladd: Congenital obstruction of the duodenum in children . In: The New England Journal of Medicine , Boston, 1932; Vol. 206, pp. 277-283
  9. ^ Genetics Home Reference
  10. ↑ LADD syndrome.  In: Online Mendelian Inheritance in Man . (English)
  11. ↑ Lacrimal and salivary gland aplasia. In: Orphanet (Rare Disease Database).

Web links