Presentation
Classification level: Disorder Synonym(s): Fenton-Wilkinson-Toselano syndrome Prevalence: <1 / 1 000 000 Inheritance: Unknown Age of onset: Infancy, Childhood ICD-10: Q87.8 OMIM: - UMLS: - MeSH: - GARD: 2287 MedDRA: - The documents contained in this web site are presented [orpha.net]
Entire Body System
- Multiple Congenital Anomalies
Homepage Rare diseases Search Search for a rare disease Ataxia-photosensitivity-short stature syndrome Disease definition A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly [orpha.net]
- Disability
Ataxia-photosensitivity-short stature syndrome Disease definition A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability [orpha.net]
- Short Stature
[…] of the face and trunk), short stature and intellectual disability. [orpha.net]
Jaw & Teeth
- High Arched Palate
Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983. [orpha.net]
Skin
- Photosensitivity
Homepage Rare diseases Search Search for a rare disease Ataxia-photosensitivity-short stature syndrome Disease definition A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly [orpha.net]
Neurologic
- Ataxia
Homepage Rare diseases Search Search for a rare disease Ataxia-photosensitivity-short stature syndrome Disease definition A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly [orpha.net]
Proc-Natl-Acad-Sci-U-S-A. 2001 Nov 6; 98(23): 12860-2 Murai,-M; Enokido,-Y; Inamura,-N; Yoshino,-M; Nakatsu,-Y; van-der-Horst,-G-T; Hoeijmakers,-J-H; Tanaka,-K; Hatanaka,-H Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma [malattierare.regione.veneto.it]
Treatment
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]