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713 Possible Causes for Hirsutism, prenatal and postnatal, Short Stature

  • Hypogonadotropic Hypogonadism

    Aged 17 years, the boy was referred because of short stature (162 cm) and overweight (62.5 kg).[ncbi.nlm.nih.gov] Annual frequency and prevalence of KS diagnoses in the period 1970–2000 diagnosed prenatally or postnatally Year Prenatal diagnosis of KS Postnatal diagnosis of KS All prenatal[doi.org] stature (in some cases) Adults: Loss of interest in sex (libido) in men Loss of menstrual periods (amenorrhea) in women Decreased energy and interest in activities Loss of[medlineplus.gov]

  • Turner Syndrome

    stature (Short-Stature Group) were enrolled.[ncbi.nlm.nih.gov] Research Prenatal and postnatal...[doi.org] "Skeletal dysplasias: A radiographic approach and review of common non-lethal skeletal dysplasias."[en.wikipedia.org]

  • Donohue Syndrome

    short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] It is characterised by severe metabolic and endocrine derangement, prenatal and postnatal linear growth impairment, soft tissue overgrowth, and poor development of adipose[ncbi.nlm.nih.gov] […] a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis[ncbi.nlm.nih.gov]

  • Cornelia De Lange Syndrome

    In its classical form, it is characterised by distinctive facial features, intra-uterine growth retardation, short stature, developmental delay, and anomalies in multiple[ncbi.nlm.nih.gov] It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism.[ncbi.nlm.nih.gov] There was a distinct facial dysmorphism with arched and bushy eyebrows, long philtrum, thin upper lip, depressed nasal bridge and hirsutism.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[ncbi.nlm.nih.gov] Diagnosis Prenatal screening studies that may be useful include the following: Chorionic villus sampling Amniocentesis Postnatal diagnostic studies that may be helpful include[emedicine.medscape.com] Birth history (Prenatal, Natal and Postnatal History) Gravida/ Para: G3P3 Tetanus toxoid: taken two doses TT Medication during pregnancy: was under continuous iron and calcium[slideshare.net]

  • 3M Syndrome Type 1

    stature syndrome) AR 9 9 ORC4 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) AR 22 6 ORC6 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) AR 7 6 OTX2[blueprintgenetics.com] Abstract The 3-M syndrome is a clinically recognizable disorder characterized by prenatal and postnatal growth retardation and a spectrum of consistent minor anomalies.[ncbi.nlm.nih.gov] Fetal alcohol syndrome: microcephaly-decreased subcutaneous fat, hirsutism, nail hypoplasia, facial appearance and mental retardation with significant behavioural problems[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 6

    The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease.[orpha.net] We recommend the use of the above trisaccharide substrate for both postnatal and prenatal diagnosis of Maroteaux-Lamy syndrome. 1986 London: The Biochemical Society[biochemj.org] [rarediseases.org] Skin Hirsutism Patients with MPS III are mentally retarded with severe hirsutism and synophrys.[symptoma.com]

  • Gorlin-Chaudhry-Moss Syndrome

    Typical findings in the GCM syndrome are short stature, stocky body build, midface hypoplasia, small eyes, downslanting palpebral fissures, conductive hearing loss, highly[ncbi.nlm.nih.gov] OMIM : 58 Fontaine progeroid syndrome is characterized by prenatal and postnatal growth retardation, decreased subcutaneous fat tissue, sparse hair, triangular face, widely[malacards.org] […] phenotypes: Commonly - More than 50% cases Mandibular prognathia Not very common - Between 30% and 50% cases Wide anterior fontanel Commonly - More than 50% cases Generalized hirsutism[mendelian.co]

  • Mucopolysaccharidosis 2

    ) above MPS VI Maroteaux–Lamy syndrome ARSB deficiency 253200 ARSB 5q14.1 N-acetylgalactosamine-4-sulfatase Dermatan sulfate Severe skeletal dysplasia, short stature, motor[en.wikipedia.org] Prenatal pathology in mucopolysaccharidoses: a comparison with postnatal cases. Clin Neuropathol 1983; 2 :122–127. 51.[nature.com] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov]

  • Mucopolysaccharidosis 1H

    Other causes of general learning disability and short stature.[patient.info] Gargoylism (Hunter-Hurler's disease, dysostosis multiplex, lipochondodystrophy) prenatal and neonatal bone lesions and their early postnatal evaluation. Amer. J.[link.springer.com] Affected individuals exhibit severe mental retardation, clouding of the corners of the eyes, deafness, hirsutism (hairiness), enlarged liver and spleen, dwarfism with hunched[britannica.com]

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