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4,098 Possible Causes for Buccal Frenulae, Short Stature, Syndactyly between Adjacent Toes

  • 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] ) 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] frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation respiratory[humpath.com]

  • Craniosynostosis Type 3

    Additional findings are hypotrichosis (sparse hair), cataracts, skin atrophy, dental anomalies and short stature.[bredagenetics.com] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] He presented with brachycephaly, bilateral prominent ear crus, and short stature (161 cm).[nature.com]

  • Growth Failure

    Children with short stature in whom no specific cause is identified may be diagnosed with idiopathic short stature.[ncbi.nlm.nih.gov] Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org] References: [9] Treatment Management depends on the underlying cause : References: [9] Skeletal dysplasias Achondroplasia Etiology Epidemiology Most common type of skeletal[amboss.com]

    Missing: Syndactyly between Adjacent Toes
  • X-Linked Mandibulofacial Dysostosis

    stature, bilateral hearing loss, and learning disability.[malacards.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] stature Decreased body height Small stature [ more ] 0004322 Triangular face Face with broad temples and narrow chin Triangular facial shape [ more ] 0000325 Webbed neck[rarediseases.info.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • Mohr Syndrome

    dysplasia • Inheritance: autosomal recessive Oral-facial-digital syndrome V (aka, Thurston syndrome) • Distinguishing feature: cleft lip; postaxial polydactyly; early dental[medlink.com] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com] Hereditary abnormality of the buccal mucosa: abnormal bands and frenula. Revuede stomatologic 1994;55:209-27. 5. Toriello HV. Oral facial digital syndromes.[journalofpediatriccriticalcare.com]

    Missing: Syndactyly between Adjacent Toes
  • 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] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] A short-stature panel genetic test was conducted in accordance with the phenotype of the fetus.[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes
  • 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] 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] stature Referral as indicated Endocrine evaluation for growth hormone therapy to treat short stature and hormone therapy for delayed puberty Gastroenterologic Feeding difficulties[aafp.org]

    Missing: Syndactyly between Adjacent Toes
  • 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] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com] These fibrous bands are hyperplastic frenulae extending from the buccal mucous membrane to the alveolar ridge, resulting in notching of the alveolar ridges.[pocketdentistry.com]

    Missing: Syndactyly between Adjacent Toes
  • 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] Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org] Growth failure leading to short stature is sometimes due to a growth hormone deficiency.[findzebra.com]

    Missing: Syndactyly between Adjacent Toes
  • 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] 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] Affected individuals have dysmorphism, short stature, failure to thrive, microcephaly, multiple congenital malformations, and mental retardation.[ncbi.nlm.nih.gov]

    Missing: Syndactyly between Adjacent Toes

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