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539 Possible Causes for High Arched Palate, long, Narrow Face

  • Marfan Syndrome

    […] view 613 KB version view 3 KB version A young man with Marfan syndrome, showing characteristically long limbs and narrow face. view 369 KB version view 5 KB version Arachnodactyly[medgen.genetics.utah.edu] Marfan syndrome features may include: Tall and slender build Disproportionately long arms, legs and fingers A breastbone that protrudes outward or dips inward A high, arched[mayoclinic.com] The main clinical manifestations include long limbs, long slender fingers, lens subluxation, abnormal cardiac valves, and aortic aneurysm.[ncbi.nlm.nih.gov]

  • Kaufman Oculocerebrofacial Syndrome

    Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies[ncbi.nlm.nih.gov] Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched[orpha.net] face, eye anomalies, small mandible, upslanting palpebral fissure (the distance between the upper & lower eyelids), highly arched palates & preauricular skin tags. severely[signssymptoms.org]

  • Homocystinuria

    They tend to have a long, narrow face and high arched palate (roof of the mouth).[encyclopedia.com] Presentation Skeletal features: Marfanoid habitus with normal to tall stature (occasionally failure to thrive in infancy), fine, brittle hair, hypopigmentation, high arched[patient.info] OBJECTIVE: To describe the long-term ophthalmologic outcomes of patients with methylmalonic aciduria and homocystinuria, cobalamin C type (cblC).[ncbi.nlm.nih.gov]

  • Sotos Syndrome

    Her mother also had tall stature and a long narrow face. The baby and her mother were suspected of having familial SS.[ncbi.nlm.nih.gov] Dental abnormalities include enamel hypoplasia, expansion of the pulp cavity, high arched palate, and absence of the bilateral pre-molar teeth of the mandible.[ncbi.nlm.nih.gov] The authors report a series of 19 SS patients with FS and/or epilepsy during childhood and a long-term follow-up. More than half of FS evolved to epilepsy.[ncbi.nlm.nih.gov]

  • Seckel Syndrome

    Small head, large eyes, beak-like nose, narrow face, and receding mandible. Laryngeal stenosis.[accessanesthesiology.mhmedical.com] Cleft palate and high arched palate have been reported. Dental abnormalities such as poor enamel production, smaller and fewer teeth, and dental crowding, are common.[symptoma.com] Analysis of bone marrow chromosomes showed an abnormal clone with abnormalities involving multiple chromosomes, including monosomy 7, trisomy 8, trisomy 11, and loss of the long[ncbi.nlm.nih.gov]

  • RAPADILINO Syndrome

    RAPADILINO SYNDROME Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate Statements Identifiers Sitelinks Wikipedia[wikidata.org] Overview A rare genetic condition characterized primarily by a cleft palate which has a high arch and missing or underdeveloped kneecaps as well as other anomalies.[checkorphan.org] Additional findings were absence of thumbs, dislocation of joints, unusual facies (long face with narrow palpebral fissures, long slender nose, small chin, and unusual ears[humpath.com]

  • Paraplegia - Brachydactyly - Cone-Shaped Epiphysis Syndrome

    Dysmorphism Dysmorphic facial features include a long face with bitemporal narrowing, high-arched eyebrows, ptosis, prominent nasal bridge with anteverted nostrils, triangular[entokey.com] arched palate Left ventricular hypertrophy/congenital heart disease Hepatic fibrosis The pathogenesis of BBS is also interesting [ 7,8 ].[academic.oup.com] Metaphysis – The metaphysis is the wide portion of a long bone between the epiphysis and the narrow diaphysis.[wikivisually.com]

  • FRAXA Syndrome

    .  Large testes (Macroorchidism)  Large ears  Long, narrow face  Soft skin  Poor eyesight  Large body size  Square chin  Frontal bossing 7.[de.slideshare.net] Behavior problems and speech/language delay are common features of Fragile X Syndrome ... also have a number of recognizable physical features, including a high arched palate[ibis-birthdefects.org] We hypothesize that this subgroup of alleles and haplotypes are associated with long pure CGGs ( 15 CGG) or 35 repeats and, having shared an evolutionary past, would have[ncbi.nlm.nih.gov]

  • Microdeletion 3q29 Syndrome

    The most common features include mild-to-moderate intellectual deficit and slightly dysmorphic facial features: microcephaly, long and narrow face, short philtrum, large posteriorly[orpha.net] High-arched palate, widely spaced teeth, clumsy gait, head banging, macrocephaly, patent ductus arteriosus, chest cavity deformity, and hypospadias were identified in one[doi.org] […] face, long nose with a high bridge and broad tip, short philtrum and large ears.[ncbi.nlm.nih.gov]

  • X-Linked Centronuclear Myopathy

    […] and elongated face.[secure.ssa.gov] Physical examination of both newborns revealed long thin face, high-arched palate, mild bilateral ptosis, frog-leg posture, and absence of deep tendon reflex.[ncbi.nlm.nih.gov] A narrow head, ptosis, ophthalmoplegia, and a high-arched palate were remarkable.[thieme-connect.com]

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