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]

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

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

Genital hypoplasia in males and hypertrichosis are often observed. Intellectual deficit is severe to profound and the prognosis is poor. [ncbi.nlm.nih.gov]

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]

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 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]

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]

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]

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]

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]

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]

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]

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]

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]