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34 Possible Causes for Buccal Frenulae, Cleft Palate, Hypertelorism

  • Pallister W Syndrome

    The features of Pallisker killian rarely involved cleft palate and anorectal anomalies (2).[latunisiemedicale.com] […] nervous system Excludes: hemangioma (228.02) neurofibromatosis (237.7) peripheral, sympathetic, and parasympathetic nerves and ganglia (215.0-215.9) retrobulbar (224.1) 376.41 Hypertelorism[genedx.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]

  • Saethre-Chotzen Syndrome

    In our patients, high-arched palate was noted in 43%, bifid uvula in 10%, and cleft palate in 6%.[ncbi.nlm.nih.gov] Chotzen, German psychiatrist, 20th century an autosomal-dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and by hypertelorism, ptosis[medical-dictionary.thefreedictionary.com] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz]

  • Simpson Dysmorphia Syndrome

    […] and cleft palate.[oatext.com] […] lethal form of SGBS is sometimes known as SGBS type 2. [1] [2] People with SGBS typically have distinctive facial features, including a large distance between the eyes ( hypertelorism[rarediseases.info.nih.gov] 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]

  • Gorlin Psaume Syndrome

    Cleft palate and lobed, bifid tongue.ognized (Table 1).[docslide.us] Ocular: Hypertelorism; displaced medial and lateral canthi; antimongoloid slanting of palpebral fissures; exotropia; see-saw winking.[esanatos.com] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com]

  • Bifid Nose

    Cleft lips and palates happen before birth. A baby can have a cleft lip, cleft palate, or both. A cleft lip may be on one or both sides of the upper lip.[asha.org] We report five individuals in 3 generations of a family who had a bifid nose without apparent hypertelorism or mental retardation.[ncbi.nlm.nih.gov] Hereditary abnormality of the buccal mucosa: abnormal bands and frenula. Revuede stomatologic 1994; 55: 209-27. 3.Toriello HV. Oral facial digital syndromes.[jpma.org.pk]

  • Mohr Syndrome

    She was unable to adjust for natural feeding due to her lobulated tongue and cleft palate.[ijcasereportsandimages.com] Fingers) UGC155/3/3/91 SH, Short palate Digitised copy available UGC155/3/3/92 SP, Small Patella Syndrome UGC155/3/3/93 SW, Swann antigen UGC155/3/3/94 SY, Syndactyly with hypertelorism[wellcomelibrary.org] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com]

  • Familial Scaphocephaly Syndrome

    Summary Although syndromic cleft lip and palate is occasionally associated with other anomalies, even with craniosynostosis, non-syndromic cleft lip and palate is rarely seen[link.springer.com] Definition An autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability[uniprot.org] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz]

  • Autosomal Dominant Prognathism

    , 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] Crouzon disease - craniostosis with widening of the skull and high forehead, ocular hypertelorism, exophthalmos, beaked nose, and hypoplasia of the maxilla.[medical-dictionary.thefreedictionary.com] CCD is characterized by brachycephaly, hypertelorism, prominent orbital ridges, the inferior margin reduced to the small maxillae, and relative mandibular prognathism [ 1[e-acfs.org]

  • X-Linked Mandibulofacial Dysostosis

    , 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] With Esophageal Abnormality And Hypospadias Hypertelorism-Hypospadias Syndrome Telecanthus-Hypospadias Syndrome GBBB1 BBBG1 300000 Genetic Test Registry[ukgtn.nhs.uk] 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]

  • Isolated Trigonocephaly

    Cleft palate without cleft lip is a distinct disorder.[sonoworld.com] Orbital hypertelorism. II. Definite treatment of orbital hypertelorism by craniofacial or by extracranial osteotomies.[nature.com] It was first reported by Opitz, et al. in 1969 and is characterized by trigonocephaly (prominent metopic sutures), multiple buccal frenula, polydactyly, skin laxity, primordial[indianpediatrics.net]

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