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]

• Developmental Delay

  Features that often occur in people with chromosome 17p duplication include slowed growth both before and after birth; developmental delay ; reduced muscle tone (hypotonia ); congenital heart defects ; and distinctive facial features.[1][2] Most cases [rarediseases.info.nih.gov]

  A rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 with characteristics of pre and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive [ncbi.nlm.nih.gov]

  Disease definition Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital [orpha.net]

• Failure to Thrive

  […] to thrive Growth retardation Motor retardation Mental retardation Wide gait Deafness [checkorphan.org]

• High Arched Palate

  Facial dysmorphism includes microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia, high-arched palate and a short broad neck. [ncbi.nlm.nih.gov]

  Clinical description Facial dysmorphism includes microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia, high-arched palate and a short broad neck. [orpha.net]

• Low Set Ears

  The list of signs and symptoms mentioned in various sources for Trisomy 17p includes the 44 symptoms listed below: Small head Underdeveloped midface Small jaw Frontal bossing Dysplastic ears Low set ears Widely spaced eyes Closely spaced eyes Narrow space [checkorphan.org]

• Hypertelorism

  Facial dysmorphism includes microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia, high-arched palate and a short broad neck. [ncbi.nlm.nih.gov]

  Clinical description Facial dysmorphism includes microcephaly, receding forehead, down-slanting palpebral fissures, ptosis, hypertelorism, low-set malformed ears, smooth philtrum, micrognathia, high-arched palate and a short broad neck. [orpha.net]

• Short Neck

  neck Webbed neck Widely spaced nipples Inguinal hernia Flexion anomaly of fingers Long fingers Tapered fingers Overriding toes Hammer toes Transverse palmar creases Flexion contractures of joints Kyphosis Scoliosis Excessive muscle tone Reduced muscle [checkorphan.org]

  neck with a low hair line, and eye malformations. [ncbi.nlm.nih.gov]

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]

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 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]

Summary Epidemiology It has been described in fewer than 15 patients. [orpha.net]