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31 Possible Causes for Hypertrichosis of Eyebrows, Long Lashes, Short Stature

  • 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] lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline.[genedx.com] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com]

  • 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]

  • Hajdu Cheney Syndrome

    Cranio-skeletal dysplasia. Br J Radiol 1948;21:42-8. 2. Marik I, Kuklik M, Zemkowa D, Kozlowski K.[ijri.org] Clinical manifestations include: transverse band of acro-osteolysis involving the phalanges of both hands and feet, severe osteoporosis short stature, deformities involving[iofbonehealth.org] Clinical features include: short stature; premature loss of dentition; short webbed neck pseudoclubbing; shortening of digits; pain in digits optical atrophy; optic disc edema[radiopaedia.org]

  • Congenital Disorder of Glycosylation Type 2A
  • Coffin-Siris Syndrome
  • 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] Affected individuals had long lashes, wide-set eyes, arched brows, a long philtrum (the space between the nose and the upper lip), short nose, low-set ears and a high palate[geneticliteracyproject.org] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[orpha.net]

  • 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] Ophthalmological Manifestations Synophrys and long eye lashes although not specific, are seen in over 95 % of children with CdLS.[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]

  • Lytic Bone Lesion

    Clinical manifestations include: transverse band of acro-osteolysis involving the phalanges of both hands and feet, severe osteoporosis short stature, deformities involving[iofbonehealth.org] […] eyebrows and lashes, prominent supraorbital ridges, hyper- telorism, micrognathia, highly arched palate, hick tongue, and stenotic ear canals (Fig. 1).[docslide.net] […] of the medial part of the eyebrows” is present, meaning excessive hair growth in the patients’ eyebrow region, most likely leading to a unibrow. [ 6 ] The fourth symptom,[senyawa-kimia.blogspot.com]

  • Amaurosis-Hypertrichosis Syndrome

    Syndrome Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome Cerebrofaciothoracic Dysplasia Char Syndrome Chops Syndrome[familydiagnosis.com] Terminal hair, the third type, is on the scalp and forms the eyebrows and lashes.[blogs.plos.org] , associated with trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair .[checkorphan.org]

  • Acrorenal Mandibular Syndrome

    Dysplasia And Progressive Central Nervous System Degeneration, Lethal Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification Skeletal Dysplasia, Rhizomelic[rgd.mcw.edu] […] eye lashes, long philtrum, low-set ears, short upturned nose, thin downturned lips OTHER: developmental delay (severe speech delay mild-moderate MR), seizures (23%), congenital[quizlet.com] Sparse and thin eyebrow Small nail Large fontanelles Enlarged cochlear aqueduct Dilatated internal auditory canal Incomplete partition of the cochlea type II Atresia of the[mendelian.co]

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