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]
Entire Body System
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Inguinal Hernia
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 tone Excessive hair growth Hydrocephaly Congenital [checkorphan.org]
Gastrointestinal
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Failure to Thrive
[…] to thrive Growth retardation Motor retardation Mental retardation Wide gait Deafness [checkorphan.org]
Skin
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Hypertrichosis
Genital hypoplasia in males and hypertrichosis are often observed. Intellectual deficit is severe to profound and the prognosis is poor. [ncbi.nlm.nih.gov]
Ears
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Dysplastic 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]
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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]
Eyes
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Small Eyes
eyes Small pupils Broad nasal bridge Small mouth Open mouth Highly arched palate Short neck Webbed neck Widely spaced nipples Inguinal hernia Flexion anomaly of fingers Long fingers Tapered fingers Overriding toes Hammer toes Transverse palmar creases [checkorphan.org]
Musculoskeletal
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Short Arm
Overview Trisomy 17p (T17p) is a rare chromosomal disorder involving an extra copy of partial genetic material from the short arm of chromosome 17. [checkorphan.org]
Chromosome 17p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 17. [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]
Article Language English Keyword (fr) Bras court Chromosome E17 anormal Chromosome surnuméraire DNA satellite De novo Diagnostic Nourrisson Phénotype Prénatal Trisomie partielle Aberration chromosomique Aneuploïdie Chromosome anormal Homme Keyword (en) Short [pascal-francis.inist.fr]
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Flexion Contracture
contractures of joints Kyphosis Scoliosis Excessive muscle tone Reduced muscle tone Excessive hair growth Hydrocephaly Congenital heart defects Kidney abnormalities Undescended testes Underdeveloped male genitalia Failure to thrive Growth retardation [checkorphan.org]
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Small Head
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]
Breast
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Widely Spaced Nipples
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 tone Excessive hair growth [checkorphan.org]
Face, Head & Neck
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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]
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Broad Nasal Bridge
nasal bridge Small mouth Open mouth Highly arched palate Short 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 [checkorphan.org]
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Frontal Bossing
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]
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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]
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]