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162 Possible Causes for Hypertrichosis of Eyebrows, Short Stature

  • Coffin-Lowry Syndrome

    Coffin-Lowry Syndrome is characterized by mental retardation, skeletal abnormalities, delayed bone development, short stature, tapered fingers, large ears, orbital hypertelorism[ncbi.nlm.nih.gov] Coffin-Lowry syndrome is a rare X-linked disorder characterized by craniofacial and skeletal abnormalities, mental retardation, short stature, and hypotonia.[ncbi.nlm.nih.gov] Other clinical findings include short stature (95%), a pectus deformity (80%), a kyphosis and/or scoliosis (80%), mitral valve dysfunction, and sensorineural hearing loss.[ncbi.nlm.nih.gov]

  • Rubinstein-Taybi Syndrome

    Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, dysmorphic facial features, mental retardation, and short stature[ncbi.nlm.nih.gov] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com] Rubinstein-Taybi syndrome (RTS; MIM# 180849) is a well-known malformation syndrome, characterized by broad thumbs and halluces, a characteristic facies, short stature, and[ncbi.nlm.nih.gov]

  • Fucosidosis

    At age 12, he could not walk without help; he was admitted to the hospital with intellectual disability, short stature and coarse facial features.[ncbi.nlm.nih.gov] The clinical examination revealed short stature, coarse facial features, bilateral ptosis, hypertonic lower extremities, psychomotor retardation and asthma.[omicsonline.org] Bone cells are involved which can result in short stature, coarse facial features, and prominent eyes. Seizures have been reported.[disorders.eyes.arizona.edu]

  • Wiedemann-Steiner Syndrome

    Short stature is a recognised feature of WSS; the molecular basis for short stature has not been ascertained but had been assumed to be intrinsic to the genetic defect.[ncbi.nlm.nih.gov] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net] Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.[uniprot.org]

  • Cerebro-Facio-Thoracic Dysplasia

    […] neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body height Small stature [ more ] 0004322[rarediseases.info.nih.gov] ), a narrow forehead and a short nose; there are also hypertrichosis (espec- ially posteriorly) and mental retardation.[vdocuments.site] stature syndrome SHOX Short stature, microcephaly, and endocrine dysfunction XRCC4 Short stature, optic nerve atrophy, and Pelger-Huet anomaly NBAS SHORT syndrome PIK3R1[centogene.com]

  • Schwartz-Jampel Syndrome

    The main clinical features of this syndrome include generalized myotonic myopathy, skeletal dysplasia, blepharophimosis, microstomia, contracture of joints and short stature[ncbi.nlm.nih.gov] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[advbiores.net] We report a female infant, born at 30 weeks of gestation, who exhibited generalized myotonia, facial dysmorphism, blepharophimosis, and short stature at birth.[ncbi.nlm.nih.gov]

  • SHORT Syndrome

    Hyperphagic short stature is associated with learning disabilities.[patient.info] We and others noticed that some patients had features reminiscent of CdLS, particularly where facial hypertrichosis and prominent eyebrows were present.[nature.com] Growth hormone therapy helps in augmentation of the short stature.[jmgims.co.in]

  • Acrootoocular Syndrome

    […] foot ; Short metacarpal ; Short phalanx of finger ; Short stature ; Wide nasal base Associated Genes - Mouse Orthologs - Source OMIM:264475 (names, synonyms, disease associated[mousephenotype.org] A down sloping V-shaped configuration of the eyebrows as they met and extended onto the upper part of the nasal bridge is common. Brow hypertrichosis may be observed.[entokey.com] stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322 10 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347 11 delayed eruption of teeth 60 33 frequent (33%[malacards.org]

  • Autosomal Dominant Mental Retardation Type 21

    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] […] that grow together (synophrys); long, curly eyelashes; and/or excessive hair growth on various areas of the body (hypertrichosis).[rarediseases.org] Stature Syndrome, Brussels Type Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia[rgd.mcw.edu]

  • Microcephaly

    stature and brachydactyly, and additionally talipes in one patient. 2015 Wiley Periodicals, Inc.[ncbi.nlm.nih.gov] Characteristic facial features included micrognathia, a thin upper lip and long philtrum, narrow almond-shaped palpebral fissures, synophrys, flared eyebrows and facial hypertrichosis[ncbi.nlm.nih.gov] stature, intellectual disability, and microcephaly.[ncbi.nlm.nih.gov]

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