Teebi-type hypertelorism
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| ICD-10 online (WHO version 2019) | |
The Hypertelorismus type Teebi is a very rare congenital form of cranio-fronto-nasal dysplasia (CFNS), but without craniosynostosis and without nail changes.
Synonyms are: dysplasia, brachy-cephalo-fronto-nasal; Cranio-fronto-nasal dysplasia, Teebi type; Teebi Hypertelorism Syndrome; Teebi syndrome
The name refers to the author of the first description from 1987 by the human geneticist Ahmad S. Teebi from Kuwait .
distribution
The frequency is given as less than 1 in 1,000,000, the inheritance is autosomal dominant , the cause is not yet known.
Perhaps one is mutation in SPECC1L - gene in chromosome 22 locus q11.23 involved.
Clinical manifestations
Clinical criteria are:
- Hypertelorism , prominent forehead, wide eyebrows, wide eyelid slits, ptosis , short nose, wide bridge of the nose, deeply attached auricles, thin upper lip
- Clinodactyly of the little finger, possibly with radial deviation, sickle foot
- Cryptorchidism
- Omphalocele
- Heart defect
A number of other abnormalities were also described, such as the funnel chest, misaligned kidneys, cleft lip and palate , and abnormal shoulder blades
Differential diagnosis
In addition to the cranio-fronto-nasal dysplasia, the Aarskog syndrome and the hypertelorism-hypospadias syndrome must be distinguished.
literature
- R. Koenig: Teebi hypertelorism syndrome. In: Clinical dysmorphology. Vol. 12, No. 3, July 2003, pp. 187-189, doi: 10.1097 / 01.mcd.0000077563.66911.c4 , PMID 14564158 .
- LA Machado-Paula, ML Guion-Almeida: Teebi hypertelorism syndrome: additional cases. In: American journal of medical genetics. Part A. Vol. 117A, No. 2, March 2003, pp. 181-183, doi: 10.1002 / ajmg.a.10919 , PMID 12567419 .
- HV Toriello, K. Delp: Teebi hypertelorism syndrome: report of a third family. In: Clinical dysmorphology. Vol. 3, No. 4, October 1994, pp. 335-339, PMID 7894738 (Review).
Individual evidence
- ↑ RF Stratton: Teebi hypertelorism syndrome (brachycephalofrontonasal dysplasia) in a US family. In: American journal of medical genetics. Vol. 39, No. 1, April 1991, pp. 78-80, doi: 10.1002 / ajmg.1320390117 , PMID 1867268 .
- ↑ a b c Hypertelorism of the Teebi type. In: Orphanet (Rare Disease Database).
- ^ AS Teebi: New autosomal dominant syndrome resembling craniofrontonasal dysplasia. In: American journal of medical genetics. Vol. 28, No. 3, November 1987, pp. 581-591, doi: 10.1002 / ajmg.1320280306 , PMID 3425628 .
- ↑ EJ Bhoj, D. Li, MH Harr, L. Tian, T. Wang, Y. Zhao, H. Qiu, C. Kim, JD Hoffman, H. Hakonarson, EH Zackai: Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. In: American journal of medical genetics. Part A. Vol. 167A, No. 11, November 2015, pp. 2497-2502, doi: 10.1002 / ajmg.a.37217 , PMID 26111080 .
