Definition A neurologic disorder characterized by severe intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Affected females have a milder phenotype than affected males. [uniprot.org]

stature (NGS panel of 75 genes) Mental retardation, X-linked (NGS panel for 89 genes) [cgcgenetics.com]

Orpha Number: 3459 Disease definition Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature [rarediseases.info.nih.gov]

Get Update Overview Wilson-Turner syndrome is an X-linked recessive neurologic disorder characterized by intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. [diseaseinfosearch.org]

gain may continue past a set point normally regulated by the onset of puberty. [nature.com]

shaped fingers - Striae - Synophris / synophrys - Tapered fingers - Thick / bushy eyebrows - Thick / wide ear lobe - Umbilical hernia - Undescended / ectopic testes / cryptorchidia / unfixed testes [csbg.cnb.csic.es]

These individuals have a larger stature, head, and chin, in addition to coarse facial features. Unlike the females in Wilson's study, these females showed signs of being affected, although less severe than their male counterparts. [en.wikipedia.org]

A key feature of gynecomastia is rubbery or firm glandular subcutaneous chest tissue that is palpated under the areola of the nipple, instead of the soft fatty tissue. [14] There can also be in increase in the diameter of the areola asymmetry in the chest [en.wikipedia.org]

[…] preeclampsia / gravidic toxemia - Micropenis / small penis / agenesis - Microstomia / little mouth - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Pointed chin - Preauricular / branchial tags / appendages - Prognathism [csbg.cnb.csic.es]

teeth spacing Abnormality of alignment of teeth Abnormality of teeth spacing Crooked teeth Malaligned teeth Malposition of teeth Malpositioned teeth [ more ] 0000692 Muscular hypotonia Low or weak muscle tone 0001252 Obesity Having too much body fat [rarediseases.info.nih.gov]

chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Short ear Short ears 0400005 X-linked dominant inheritance 0001423 X-linked recessive inheritance 0001419 Showing of 41 Last updated: 6/1/2019 If you need medical advice, you can look for doctors [rarediseases.info.nih.gov]

hand Disproportionately small hands 0200055 Tapered finger Tapered fingertips Tapering fingers [ more ] 0001182 Thick eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thin upper lip vermilion Thin [rarediseases.info.nih.gov]

/ external auditory canal / pinnae aplasia / hypoplasia - Pointed chin - Preauricular / branchial tags / appendages - Prognathism / prognathia - Protruding lips - Round ear - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Small [csbg.cnb.csic.es]

Signs and symptoms in affected males include severe intellectual disability, short stature, obesity, breast enlargement (gynecomastia), reduced production of sex hormones (hypogonadism), an unusually small head, small hands, and distinctive facial features [ghr.nlm.nih.gov]

hands and feet. [5] However, there is some speculation that this syndrome is in the same spectrum as the Cornelia de Lange syndrome. [6] Symptoms [ edit ] The most notable features of Wilson-Turner syndrome are intellectual disability, obesity, hypogonadism [en.wikipedia.org]

retardation / learning disability - Irregular length / shape of fingers - Long / large ear - Lymphedema - Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia - Micropenis / small penis / agenesis - Microstomia / little mouth - Microtia [csbg.cnb.csic.es]

lips - Round ear - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Small hand / acromicria - Small / hypoplastic / adherent / absent ear lobe - Spindle shaped fingers - Striae - Synophris / synophrys - Tapered fingers - Thick [csbg.cnb.csic.es]

[…] dominant External references: 1 OMIM reference - No MeSH references Very frequent - Generalized obesity Frequent - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia [csbg.cnb.csic.es]

development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ] 0001344 Brachycephaly Short and broad skull 0000248 Decreased muscle mass Underdeveloped muscles 0003199 Decreased testicular [rarediseases.info.nih.gov]

Children display delays in speech development often combined with excessive drooling and low voice tones. [en.wikipedia.org]

If speech develops, it is delayed until mid-childhood or later. Children with Mowat-Wilson syndrome also have delayed development of motor skills such as sitting, standing, and walking. [ghr.nlm.nih.gov]

[…] hyperplasia - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Abnormal cry / voice / phonation disorder / nasal speech - Abnormal [csbg.cnb.csic.es]

speech - Abnormal gait - Anodontia / oligodontia / hypodontia - Arthritis / synovitis / synovial proliferation - Ataxia / incoordination / trouble of the equilibrium - Brachycephaly / flat occiput - Coarse face - Hirsutism / hypertrichosis / Increased [csbg.cnb.csic.es]

[…] reference - No MeSH references Very frequent - Generalized obesity Frequent - Gynecomastia / breast / mammary gland enlargement / hyperplasia - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Speech troubles / aphasia / dysphasia [csbg.cnb.csic.es]

Children display delays in speech development often combined with excessive drooling and low voice tones. [en.wikipedia.org]