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35 Possible Causes for Buccal Frenulae, Cleft Palate, Short Stature

  • Gorlin Psaume Syndrome

    stature, facial Multiple malformation syndrome, small stature, without skeletal dysplasia MVRCS association Nail-patella syndrome Nance-Horan syndrome Neu-Laxova syndrome[icd9data.com] Cleft palate and lobed, bifid tongue.ognized (Table 1).[docslide.us] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com]

  • Mohr Syndrome

    dysplasia • Inheritance: autosomal recessive Oral-facial-digital syndrome V (aka, Thurston syndrome) • Distinguishing feature: cleft lip; postaxial polydactyly; early dental[medlink.com] She was unable to adjust for natural feeding due to her lobulated tongue and cleft palate.[ijcasereportsandimages.com] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com]

  • Saethre-Chotzen Syndrome

    Its phenotype includes uni- or bicoronal synostosis, short stature, facial dysmorphism and variable anomalies of the hands and feet.[ncbi.nlm.nih.gov] In our patients, high-arched palate was noted in 43%, bifid uvula in 10%, and cleft palate in 6%.[ncbi.nlm.nih.gov] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz]

  • Smith Lemli Opitz Syndrome

    short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com] palate.[ncbi.nlm.nih.gov] These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org]

  • Pallister-Hall Syndrome

    We conclude that children with Pallister-Hall syndrome and short stature be evaluated carefully for spontaneous somatotropic function and, if necessary, treated with growth[ncbi.nlm.nih.gov] palate and other irregularities of the palate, cleft larynx or epiglottis, cysts on the gums, and ears that are small, low-set, and abnormally rotated toward the back of[checkorphan.org] frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation respiratory[humpath.com]

  • X-Linked Mandibulofacial Dysostosis

    stature, bilateral hearing loss, and learning disability.[malacards.org] , cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge, short philtrum, cleft lip or palate[en.wikibooks.org] frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[widesmiles2.org]

  • Pallister W Syndrome

    Case presentation The proband is a 14 month-old girl with short stature and mental retardation. This was the first child from healthy unrelated parents.[molecularcytogenetics.biomedcentral.com] The features of Pallisker killian rarely involved cleft palate and anorectal anomalies (2).[latunisiemedicale.com] These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org]

  • Baller-Gerold Syndrome

    In the second family, the affected male had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation (IVS17-2A C).[ncbi.nlm.nih.gov] Mouth and oral structures: Cleft palate, bifid uvula, and highly arched palate. Hand and foot: Aplastic or hypoplastic thumbs.[whonamedit.com] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    stature syndrome SHOX Short stature, microcephaly, and endocrine dysfunction XRCC4 Short stature, optic nerve atrophy, and Pelger-Huet anomaly NBAS SHORT syndrome PIK3R1[centogene.com] hard palate, abnormal cardiovascular structure/function q36 qter MCN ID: 19980001-128 www.mcndb.org Edit 214 MCN_19880001-198 46, XY, t(4;7)(q21;q36) cleft hard palate, cleft[chr7.org] frenulae (skin connecting the cheek to the gums) Depressed nasal bridge Anterverted nares (nasal openings are tipped upwards) Low-set posteriorly rotated ears Retrognathia[bohring-opitz.org]

  • Helsmoortel-van der Aa Syndrome

    Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and[ncbi.nlm.nih.gov] Affiliated tissues include eye , and related phenotypes are hydronephrosis and cleft palate Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability[malacards.org] Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org]

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