Presentation
Treatment is based on the signs and symptoms present in each person. Last updated: 5/9/2018 [rarediseases.info.nih.gov]
The documents contained in this web site are presented for information purposes only. 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]
Gastrointestinal
- Failure to Thrive
[…] to thrive Growth retardation Motor retardation Mental retardation Wide gait Deafness [checkorphan.org]
Musculoskeletal
- Brachydactyly
Digital abnormalities include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly. Genital hypoplasia in males and hypertrichosis are often observed. Intellectual deficit is severe to profound and the prognosis is poor. [ncbi.nlm.nih.gov]
Treatment
Treatment is based on the signs and symptoms present in each person. Last updated: 5/9/2018 [rarediseases.info.nih.gov]
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]
Prognosis
Intellectual deficit is severe to profound and the prognosis is poor. Trisomy 17p has been reported to be pure, as the result of a de novo 17p duplication or an extra chromosome derived from the 17p arm. [ncbi.nlm.nih.gov]
Intellectual deficit is severe to profound and the prognosis is poor. Etiology Trisomy 17p has been reported to be ``pure'', as the result of a de novo 17p duplication or an extra chromosome derived from the 17p arm. [orpha.net]
Etiology
Etiology Trisomy 17p has been reported to be ``pure'', as the result of a de novo 17p duplication or an extra chromosome derived from the 17p arm. [orpha.net]
Epidemiology
Summary Epidemiology It has been described in fewer than 15 patients. [orpha.net]