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125 Possible Causes for Craniosynostosis, Hypertrichosis of Eyebrows

  • Rubinstein-Taybi Syndrome

    The term craniosynostosis refers to an abnormality in which the bones in an infant's skull fuse prematurely.[forgottendiseases.org] The clinical data of our cohort evidenced frequent signs such as arched eyebrows, epicanthus, synophrys and/or frontal hypertrichosis and broad phalanges that, previously[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]

  • Autosomal Dominant Prognathism

    Areas covered include: Craniosynostosis Syndromes; Syndromes Affecting Bone; Metabolic and Autoimmune Syndromes; Syndromes Affecting Skin and Mucosa; Hamartoneoplastic Syndromes[books.google.com] […] congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows[mendelian.co] Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported.[orpha.net]

  • 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]

  • Marshall-Smith Syndrome

    Underdeveloped cerebellum [ more ] 0001321 Choanal atresia Blockage of the rear opening of the nasal cavity Obstruction of the rear opening of the nasal cavity [ more ] 0000453 Craniosynostosis[rarediseases.info.nih.gov] (See "Overview of craniosynostosis" and "Craniosynostosis syndromes" .)[uptodate.com] The pathogenesis, diagnosis, and surgical management of craniosynostosis, a subset of craniofacial anomalies, and syndromes in which craniosynostosis is a primary abnormality[uptodate.com]

  • 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] […] 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]

  • Fucosidosis

    […] syndromes 269 BeckwithWiedemann syndrome 273 Sotos syndrome 277 Hamartosis syndromes 289 Neurofibromatosis1 298 Tuberous sclerosis 302 Management of craniofacial syndromes 315 Craniosynostosis[books.google.de]

  • Thanatophoric Dysplasia

    Syndactyly has not been previously described in TD or other conditions with FGFR3 mutations, but occurs in several craniosynostosis syndromes due to mutations in FGFR2.[ncbi.nlm.nih.gov] […] lungs Cloverleaf skull Feeding difficulties in infancy Rare Symptoms - Less than 30% cases Smooth philtrum Hypoglycemia Talipes Hyperhidrosis Mandibular prognathia Thick eyebrow[mendelian.co] Craniosynostosis is seen in 27.6% of patients with TD1, and it is mild in many cases.[radiologykey.com]

  • Acrootoocular Syndrome

    Apert syndrome (Medical Encyclopedia) Cleidocranial dysostosis (Medical Encyclopedia) Craniosynostosis (Medical Encyclopedia) Craniosynostosis repair (Medical Encyclopedia[icdlist.com] 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] 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]

  • Gingival Fibromatosis-Progressive Deafness Syndrome

    Areas covered include: Craniosynostosis Syndromes; Syndromes Affecting Bone; Metabolic and Autoimmune Syndromes; Syndromes Affecting Skin and Mucosa; Hamartoneoplastic Syndromes[books.google.com] Since variable expressionoccurs in autosomal dominant conditions and synophris,bushy eyebrows and hypertrichosis were not present inunaffected family members, the diagnosis[docslide.net] The KRAS-related NS phenotype tends to be atypical, with severe intellectual disability, and unusual feature of craniosynostosis in rare cases.[centogene.com]

  • Microcephaly

    If craniosynostosis is the underlying cause of microcephaly, then surgery can be done to correct the fusion and provide space for development of child’s brain.[symptoma.com] 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] There is no treatment to reverse microcephaly, except for surgery for craniosynostosis.[hopkinsmedicine.org]

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