Create issue ticket

2,116 Possible Causes for Craniosynostosis, Hypertrichosis of Eyebrows, Mutation in the MLL Gene

  • Wiedemann-Steiner Syndrome

    Utilizing a whole-exome sequencing approach, the group identified de novo mutations in the mixed lineage leukemia ( MLL ) gene in five of six individuals with the syndrome[news-medical.net] […] 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]

  • Rubinstein-Taybi Syndrome

    The term craniosynostosis refers to an abnormality in which the bones in an infant's skull fuse prematurely.[forgottendiseases.org] The common abnormalities include hypertrichosis and hirsuitism,heavy eyebrows, prominent beaked nose,hypoplastic maxilla, lowest ears and skeletal anomalies including broad[ispub.com] 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]

    Missing: Mutation in the MLL Gene
  • 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]

    Missing: Mutation in the MLL Gene
  • 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]

    Missing: Mutation in the MLL Gene
  • Genee-Wiedemann Syndrome

    Wiedemann-Steiner syndrome results from a mutation in the MLL (also known as KMT2A ) gene on the long arm of chromosome 11 .[wiedemannsteiner.com] […] microtia, skin tags, significant developmental delay, cleft palate EFTUD2 gene on chromosome 17q21 Baller Gerold syndrome (OMIM# 218600) Abnormally shaped skull, coronal craniosynostosis[gynecology-obstetrics.imedpub.com] Integumentary Hypertrichosis 5 / - Hypertrichosis cubiti 5 / - Long/thick eyelashes 5 Thick eyebrows 5 e Thick hair n.a.[bmcmedgenet.biomedcentral.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]

    Missing: Mutation in the MLL Gene
  • Crouzon Syndrome

    Craniosynostosis can happen before the baby is born or during the first few months of life.[sickkids.ca] Craniosynostosis: genes and mechanisms.[ncbi.nlm.nih.gov] (FGFR 2) gene, and characterized by craniosynostosis, shallow orbits, ocular proptosis, midface hypoplasia and a curved, beak‑like nose.[ncbi.nlm.nih.gov]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Brachycephaly

    For this same photo without the arrows, click here For more information, click on the link if you see this icon Pediatric craniosynostosis. eMedicine.[learningradiology.com] A boy with brachycephaly without craniosynostosis, raised intracranial pressure, deafness, cataracts, and global developmental delay is described.[ncbi.nlm.nih.gov] This is known as craniosynostosis.[nhs.uk]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Mucopolysaccharidosis

    We present the first reported case associating MPS-I (Hurler-Scheie subtype) with craniosynostosis. A 2.5-year-old girl presented initially with macrocrania.[ncbi.nlm.nih.gov] […] syndrome with variable manifestations exhibiting mainly microcephaly, characteristic facies, mental retardation, short stature, acral skeletal anomalies with occasional craniosynostosis[icd9data.com]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Mandibulofacial Dysostosis

    In conclusion, in children with syndromic or complex craniosynostosis, diagnosing OSA using home cardiorespiratory monitoring is feasible.[doi.org] Apert syndrome (Medical Encyclopedia) Cleidocranial dysostosis (Medical Encyclopedia) Craniosynostosis (Medical Encyclopedia) Craniosynostosis repair (Medical Encyclopedia[icdlist.com] Congenital craniofacial differences are conditions affecting the head and face that present at or shortly after birth such as craniosynostosis, cleft lip and palate, hemifacial[eng.ichacha.net]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene

Similar symptoms