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460 Possible Causes for Short Stature, Sparse Eyelashes

  • Rothmund Thomson Syndrome

    Targeted next-generation sequencing (NGS) using a custom panel consisting of 705 short-stature-related genes was performed for the probands.[ncbi.nlm.nih.gov] The authors describe two siblings with RTS and inflammatory conjunctival disease featuring fornix shortening and symblepharon as well as palpebral disease with sparse eyelashes[ncbi.nlm.nih.gov] Absence or sparseness of eyelashes and eyebrows are also common in this syndrome ( 5 ) .[200.98.68.239]

  • Hidrotic Ectodermal Dysplasia

    Short stature (5-10th centile) present in some cases is possibly a separate familial trait. The family demonstrates overlapping features with Clouston syndrome.[ncbi.nlm.nih.gov] , pale scalp hair short, sparse eyelashes sparse axillary and pubic hair Clinical features from OMIM: 601375 Human phenotypes related to Ectodermal Dysplasia, Hidrotic, Christianson-Fourie[malacards.org] Short stature, mental deficiency (rare and not typically severe), clubbing of the digits and ocular issues (strabismus, cataracts, conjunctivitis, blepharitis, myopia) have[dermatologyadvisor.com]

  • Rapp-Hodgkin Syndrome

    […] ala nasi Hypothelia Labial anomalies Low nasal bridge Show images Narrow nose Small ears Velopharyngeal incompetence Genitourinary Hypospadias of the male genitalia Growth Short[datagenno.com] He also had sparse eyelashes and eyebrows, and obstructed lacrimal puncta and epiphora. Bilateral bony external auditory canal stenosis led to hearing loss.[ncbi.nlm.nih.gov] Other signs and symptoms include hypoplasia of the maxilla (decreased size of upper jaw bone), ptosis (drooping of upper eyelid), short stature (decreased body height), syndactyly[xpertdox.com]

  • Oculo-Osteo-Cutaneous Syndrome

    Atypical Clefting SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis SHORT STATURE, RHIZOMELIC, WITH[rgd.mcw.edu] eyelashes 32 HP:0000653 10 anodontia 32 HP:0000674 11 hypotrichosis 32 HP:0001006 12 short toe 32 HP:0001831 13 fine hair 32 HP:0002213 14 absent axillary hair 32 HP:0002221[malacards.org] Sparse eyelashes MedGen UID: 375151 • Concept ID: C1843300 • Finding Decreased density/number of eyelashes.[ncbi.nlm.nih.gov]

  • Hallermann-Streiff Syndrome

    A case of a 29-year-old man with atypical HSS with neither cataracts, hair and skin alterations, nor short stature is reported, with special consideration to oral findings[ncbi.nlm.nih.gov] His ophthalmic features included sparse eyelashes and eyebrows, microphthalmia, nystagmus, lower lid entropion in the right eye, and upper lid entropion with blepharoptosis[ncbi.nlm.nih.gov] […] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Telecanthus Corners of eye widely separated[rarediseases.info.nih.gov]

  • Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome

    Short Stature Due To GHSR Deficiency Short Stature Due To Partial GHR Deficiency Short Stature Due To Primary Acid-Labile Subunit Deficiency Smith-Magenis Syndrome Spastic[familydiagnosis.com] […] absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal[ab-y-ss.com] Four sibs, three males and one female, have hypergonadotropic hypogonadism, microcephaly, short stature and multiple minor congenital anomalies.[docslide.com.br]

  • Nestor-Guillermo Progeria Syndrome

    stature ; Sinus tachycardia ; Sparse and thin eyebrow ; Sparse eyelashes ; Spotty hyperpigmentation ; Wide cranial sutures Associated Genes BANF1 (Withdrawn symbols: BAF[mousephenotype.org] Prevalence of clinical parameters (%) List of symptoms Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Short stature skeletal 100 % 21932319 2013[brain-aging.com] BANF1 gene alterations may also develop some of the following symptoms and phenotypes: Commonly - More than 50% cases Osteolysis Not very common - Between 30% and 50% cases Sparse[mendelian.co]

  • Chromosome 19q13.11 Deletion Syndrome

    […] nose Decreased length of nose Shortened nose [ more ] 0003196 Short palpebral fissure Short opening between the eyelids 0012745 Short philtrum 0000322 Short stature Decreased[rarediseases.info.nih.gov] Synopsis congenital diaphragmatic hernia (CDH) cognitive deficits cryptorchidism short stature Diamond-Blackfan anaemia (DBA) 15q25.2 target genes CPEB1, AP3B2 HOMER2 HDGFRP3[humpath.com] At 22 months of age the boy had relatively short extremities, slight macrocephaly ( 2 SD), and short stature ( 3 SD).[jmg.bmj.com]

  • Dyskeratosis Congenita

    Physical examination revealed short stature, thin graying hair, missing teeth, nail dystrophy (Panel A), tongue leukoplakia (Panel B), and reticulated hypopigmentation of[nejm.org] eyelashes 16.1 Hyperhiderosis 15.3 Malignancy 9.8 Intrauterine growth retardation 7.6 Liver disease/peptic ulceration/enteropathy 7.3 Ataxia/cerebellar hypoplasia 6.8 Hypogonadism[europeanmedical.info] stature syndrome, respectively, cause features that overlap with dyskeratosis congenita.[ncbi.nlm.nih.gov]

  • Wiedemann-Rautenstrauch Syndrome

    Patients have premature aging aspect, short stature and a poorly muscled build.[accessanesthesiology.mhmedical.com] […] and thin eyebrow Thin, sparse eyebrows 0000535 Sparse eyelashes Scant eyelashes Scanty eyelashes Thin eyelashes [ more ] 0000653 Sudanophilic leukodystrophy 0003269 Thin[rarediseases.info.nih.gov] Affected individuals exhibit intrauterine and postnatal growth retardation, leading to short stature and an aged appearance from birth.[en.wikipedia.org]

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