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458 Possible Causes for Anteverted Nostril, Mutation in the LMBR1 Gene, Syndactyly between Adjacent Toes

  • Pallister-Hall Syndrome

    ) Syndactyly (abnormal "webbing" between, or fusing of, adjacent fingers and/or toes) Short limbs Dysplastic nails ( i.e., finger nails and toe nails that are flaky and poorly[brighthub.com] (anteverted nares) and a broad or flat nasal bridge; and/or an unusually long vertical groove in the middle of the upper lip (philtrum).[rarediseases.org] […] and optic nerve problems, among other symptoms Hypopituitarism (a condition in which the pituitary gland underproduces certain hormones) Polydactyly (extra fingers and/or toes[brighthub.com]

    Missing: Mutation in the LMBR1 Gene
  • Syndactyly

    Type III results from mutation in the gene encoding GJA1. Mutations in gene that encodes for LMBR1 caused type IV.[symptoma.com] Clinical Information A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[icd9data.com] The nasal bridge is broad and the nostrils are anteverted. The ears are often low-set and rotated posteriorly.[disorders.eyes.arizona.edu]

  • Aarskog-Scott Syndrome

    The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak[ncbi.nlm.nih.gov] Aarskog-Scott syndrome: A syndrome of wide spaced eyes (ocular hypertelorism), front-facing (anteverted) nostrils, a broad upper lip, a malformed ("saddle-bag") scrotum, and[medicinenet.com]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Early Infantile Epileptic Encephalopathy Type 2

    Forms and Documents Test Details Genes: Expand Genes ADSL, ALDH5A1, ALDH7A1, ALG13, ARHGEF9, ARX, ASNS, ATP1A2, ATP1A3, ATP6AP2, ATRX, BRAT1, CACNA1A, CASK, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNA7, CHRNB2, CLCN4, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CSTB, CTNNB1, CTSD, CTSF, DDX3X, DEPDC5, DNAJC5, DNM1, DYRK1A, EEF1A2, EHMT1,[…][genedx.com]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Cold-Induced Sweating Syndrome Type 1

    All patients described to date displayed facial anomalies, including a large face, chubby cheeks, a broad nose with anteverted nostrils and long philtrum, and bilateral camptodactyly[orpha.net] Those babies have a characteristic facial anomaly (large face, chubby cheeks, broad nose with anteverted nostrils and long philtrum) and bilateral camptodactyly.[saudijhealthsci.org] FACE : Rounded, chubby with long philtrum, broad nose and anteverted nostrils, increased salivation, frequent startling, with recurrent marked facial muscles contractions[saudijhealthsci.org]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Smith Lemli Opitz Syndrome

    Facial anomalies, which include wide and flat nasal bridge, small sized nose with an upturned tip or pug nose, anteverted nostrils, undersized jaw (micrognathia), the ear[syndromespedia.com] nostrils, microg-nathia, cleft palate, thickened dental ridge, simian crease, polydactyly, metatarsus abductus, syndactyly of second and third toes, and ambiguous genitalia[indianpediatrics.net] A typical face (with incompletely rotated ears, palpebral ptosis, anteverted nostrils, flattened nasal base, and micrognathia) is easily recognized in all 11 patients.[scielo.br]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Mucopolysaccharidosis 1H

    nostrils, full cheeks and enlarged lips), cardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils and adenoids, and nasal secretion.[orpha.net] […] thoracic-lumbar kyphosis, progressive coarsening of the facial features (including large head with bulging frontal bones, depressed nasal bridge with broad nasal tip and anteverted[orpha.net]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Perinatal Lethal Gaucher Disease

    […] nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal[rarediseases.info.nih.gov] Neonatal lethal 0003811 Pancytopenia Low blood cell count 0001876 Stillbirth Stillborn 0003826 Thrombocytopenia Low platelet count 0001873 30%-79% of people have these symptoms Anteverted[rarediseases.info.nih.gov]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Coffin-Lowry Syndrome

    […] nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Brachydactyly Short fingers or toes 0001156 Broad finger Broad fingers Wide[rarediseases.info.nih.gov] Abnormality of dental shape Abnormally shaped teeth Deformity of teeth Dental deformity Dental malformations Malformed teeth Misshapen teeth Misshapened teeth [ more ] 0006482 Anteverted[rarediseases.info.nih.gov]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Atkin Syndrome

    nostrils Small jaw Thick lips Prominent eyebrows Short stature Large head Obesity Large testes Gap in front teeth Small teeth Loose joints Seizures Causes - Atkin syndrome[checkorphan.org] nostrils, micrognathia, and thick lips.[whonamedit.com] Macroorchidism Prominent supraorbital ridges Thick lower lip vermilion Mental retardation Coarse face Prominent/Broad forehead Supraorbital ridges Wide-set eyes Broad nose tip Anteverted[checkorphan.org]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes

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