Cranio-ectodermal dysplasia
| Classification according to ICD-10 | |
|---|---|
| Q87.5 | Other congenital malformation syndromes with other skeletal changes |
| ICD-10 online (WHO version 2019) | |
The Kranioektodermale dysplasia (CED) is a very rare congenital ectodermal dysplasia with the main features of teeth and hair anomalies. It is counted among the ciliopathies .
Synonyms are: Levin Syndrome 1; Scythe burner syndrome; Sensenbrenner – Dorst – Owens syndrome
The first description comes from 1975 by the US pediatricians JA Sensenbrenner, JP Dorst, RP Owens.
Another description comes from the year 1877 by LS Levin et al.
distribution
The frequency is given as less than 1 in 1,000,000, so far about 20 people have been reported. Inheritance is autosomal - recessive .
root cause
Depending on the underlying mutation , the following types can be distinguished:
- Type 1 with mutations in IFT122 - gene on chromosome 3 locus q21.3-Q22.1
- Type 2 with mutations in the WDR35 gene on chromosome 2 locus p24.1
- Type 3 with mutations in the IFT43 gene on chromosome 14 locus q24.3
- Type 4 with mutations in the WDR19 gene on chromosome 4 locus p14
and possibly still
- Type 5 with mutations in the IFT52 gene on chromosome 20 locus q13.12
Clinical manifestations
Clinical criteria are:
- Hypotrichosis with very thin, little pigmented and little hair
- Tooth malformations with hypodontia , microdontia , enamel hypoplasia , taurodontia
- Dolichocephaly with premature synostosis of the sagittal suture
- Facial dysmorphism with prominent frontal cusps, retracted nasal saddle, small nasal root, epicanthus
- Nystagmus
- Short stature
- Skeletal dysplasia with arm-accentuated rhizomelia , hyperextensible joints, short, narrow chest , funnel chest
- Changes in fingers and toes: brachydactyly , increased syndactyly and clinodactyly of the little fingers, nail abnormalities
In addition, there are nephronophthisis up to renal insufficiency in infancy, liver fibrosis and eye changes such as retinitis pigmentosa .
diagnosis
The disease can already be recorded prenatally using fine ultrasound .
Differential diagnosis
Must be distinguished are the Asphyxiating thoracic (Jeune) and the Ellis-van Creveld syndrome .
Prospect of healing
The prognosis is determined by the impairment of kidney, heart and lung function.
literature
- J. Walczak-Sztulpa, A. Wawrocka, A. Swiader-Lesniak, M. Socha, A. Jamsheer, D. Drozdz, A. Latos-Bielenska, K. Zachwieja: Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations. In: Birth defects research. Vol. 110, No. 4, 03 2018, pp. 376-381, doi: 10.1002 / bdr2.1151 , PMID 29134781 .
- S. Moosa, MG Obregon, J. Altmüller, H. Thiele, P. Nürnberg, V. Fano, B. Wollnik: Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum. In: American journal of medical genetics. Part A. Vol. 170A, No. 5, May 2016, pp. 1295-1301, doi: 10.1002 / ajmg.a.37570 , PMID 26792575 .
+ C. Smith, RE Lamont, A. Wade, FP Bernier, JS Parboosingh, AM Innes: A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35. In: American journal of medical genetics. Part A. Vol. 170, No. 3, March 2016, pp. 760-765, doi: 10.1002 / ajmg.a.37514 , PMID 26691894 .
Individual evidence
- ↑ 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 .
- ↑ a b c d e Dysplasia, cranioectodermal. In: Orphanet (Rare Disease Database).
- ↑ JA Sensenbrenner, JP Dorst, RP Owens: New syndrome of skeletal, dental and hair anomalies. In: Birth defects original article series. Vol. 11, No. 2, 1975, pp. 372-379, PMID 1227553 .
- ↑ LS Levin, JC Perrin, L. Ose, JP Dorst, JD Miller, VA McKusick: A heritable syndrome of craniosynostosis, short thin hair, dental abnormalities, and short limbs: cranioectodermal dysplasia. In: The Journal of pediatrics. Vol. 90, No. 1, January 1977, pp. 55-61, PMID 830894 .
- ↑ Cranioectodermal dysplasia 1. In: Online Mendelian Inheritance in Man . (English)
- ↑ Cranioectodermal dysplasia 2. In: Online Mendelian Inheritance in Man . (English)
- ↑ Cranioectodermal dysplasia 3. In: Online Mendelian Inheritance in Man . (English)
- ↑ Cranioectodermal dysplasia 4. In: Online Mendelian Inheritance in Man . (English)
- ^ Short-rib thoracic dysplasia 16 with or without polydactyly. In: Online Mendelian Inheritance in Man . (English)
- ↑ T. Muttusamy, A. Ma, I. Sinner Brink, AE Quinton, MJ Peek, S. Joung: Prenatal sonographic features of cranioectodermal dysplasia. In: Prenatal diagnosis. Vol. 37, No. 6, 06 2017, pp. 628-630, doi: 10.1002 / pd.5037 , PMID 28317137 .
