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25 Possible Causes for Craniosynostosis, Hypertrichosis of Eyebrows, Long Lashes

  • Rubinstein-Taybi Syndrome

    The term craniosynostosis refers to an abnormality in which the bones in an infant's skull fuse prematurely.[forgottendiseases.org] 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

    […] deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ] 0007018 Bull's eye maculopathy 0011504 Craniosynostosis[rarediseases.info.nih.gov] ), a narrow forehead and a short nose; there are also hypertrichosis (espec- ially posteriorly) and mental retardation.[vdocuments.site] […] and dental anomalies IL11RA Craniosynostosis type 1 TWIST1 Craniosynostosis type 2 MSX2 Craniosynostosis type 3 TCF12 Craniosynostosis type 4 ERF Craniosynostosis type 6[centogene.com]

  • Hajdu Cheney Syndrome

    In addition to severe bone fragility, the main features of the syndrome are craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure[iofbonehealth.org] Phenotype Craniosynostosis, ocular proptosis, hydrocephalus, distinctive facial features, and bone phenotype similar to OI type IV with recurrent diaphyseal fractures.[iofbonehealth.org]

  • Wiedemann-Steiner Syndrome

    […] and dental anomalies IL11RA Craniosynostosis type 1 TWIST1 Craniosynostosis type 2 MSX2 Craniosynostosis type 3 TCF12 Craniosynostosis type 4 ERF Craniosynostosis type 6[centogene.com] 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]

  • Blepharophimosis - Intellectual Disability Syndrome Type Verloes

    Crouzon syndrome accounts for approximately 4.8% of general craniosynostosis cases.[emedicine.medscape.com] […] atrophy Areflexia Pes cavus Babinski sign Cerebellar hypoplasia Patent ductus arteriosus Cutis laxa Widely spaced teeth Optic atrophy Axillary freckling Pulmonic stenosis Craniosynostosis[mendelian.co] SCS is considered to be one of the more common types of syndromic craniosynostosis.[disorders.eyes.arizona.edu]

  • Acrootoocular Syndrome

    Apert syndrome (Medical Encyclopedia) Cleidocranial dysostosis (Medical Encyclopedia) Craniosynostosis (Medical Encyclopedia) Craniosynostosis repair (Medical Encyclopedia[icdlist.com] Ophthalmological Manifestations Synophrys and long eye lashes although not specific, are seen in over 95 % of children with CdLS.[entokey.com] Pasteur CIPSO Chronic Intestinal Pseudo-obstruction CRIP Cysteine-rich Intestinal Protein CSB Congenital Short Bowel CSB Contaminated Small Bowel CSB Contaminated Small Bowel; Craniosynostosis[medicabbreviations.com]

  • Acrorenal Mandibular Syndrome

    Meckel Diverticulum Other names Digestive System Abnormality; Abnormality, Digestive System; Abnormalities, Digestive System Substance CAS Registry & name Categories Source Craniosynostosis[reference.md] […] 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]

  • Amaurosis-Hypertrichosis Syndrome

    Hernia Syndrome Craniosynostosis-Arthrogryposis-Cleft Palate Syndrome Craniosynostosis-Ataxia-Trigeminal Anesthesia-Parietal Anesthesia And Pons-Vermis Fusion Syndrome Craniosynostosis-Lid[neo-genetics.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]

  • Gingival Fibromatosis-Hypertrichosis Syndrome

    […] characteristics/signs/symptoms premature closing of cranial sutrues (craniosynostosis) autosomal dominant trait 0 1 in 65,00 births mutation of FGFR2 on chromosome 10q26 significant[quizlet.com] […] eye lashes.[jisppd.com] An example of naevoid circumscribed hypertrichosis is the presence of a solitary and very bushy eyebrow.[dermnetnz.org]

  • Warburg Micro Syndrome 3

    […] and dental anomalies IL11RA Craniosynostosis type 1 TWIST1 Craniosynostosis type 2 MSX2 Craniosynostosis type 3 TCF12 Craniosynostosis type 4 ERF Craniosynostosis type 6[centogene.com] lashes, beaked nose, and high narrow palate), micrognathia, hirsutism, and low anterior hairline.[genedx.com] Clinical features also included microcephaly, frontal hypertrichosis, sparse and up-slanted eyebrows, hypotelorism, short palpebral fissures, bulbous nose, arched palate,[omicsonline.org]

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