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14 Possible Causes for Buccal Frenulae, Panhypopituitarism

  • Pallister-Hall Syndrome

    These manifestations were associated with varying degrees of panhypopituitarism and pituitary aplasia.[ncbi.nlm.nih.gov] frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation respiratory[humpath.com] Pallister-Hall syndrome (PHS) is a very rare syndrome characterized by hypothalamic hamartoma (HH), polydactyly, panhypopituitarism, imperforate anus and other visceral anomalies[ncbi.nlm.nih.gov]

  • Growth Failure

    Midline defects such as cleft palate may also be associated with panhypopituitarism or specific deficits in growth hormone or thyroid hormone production.[hawaii.edu] Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org] . : Morning glory syndrome associated with transsphenoidal encephalocele and panhypopituitarism. Endocrinol Nutr. 2014; 61 (4): 222–224.[f1000research.com]

  • Simpson Dysmorphia Syndrome

    […] type 3 Paris-Trousseau thrombocytopenia Congenital generalized lipodystrophy type 4 Cataract ataxia deafness Multiple epiphyseal dysplasia 3 Pfeiffer Palm Teller syndrome Panhypopituitarism[checkrare.com] 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] frenula -microglossia -micrognathia -cleft palate -malformed ears describe waardenburg syndrome type I -autosomal dominant -wide nasal bridge -short philtrum -cleft lip or[brainscape.com]

  • Pallister W Syndrome

    The main cause of mortality in the first-described cases was acute adrenal insufficiency associated with panhypopituitarism (1).[ajnr.org] This early lethality is most likely attributable to panhypopituitarism that is caused by pituitary or hypothalamic dysplasia or severe airway malformations such as laryngotracheal[atlasgeneticsoncology.org] Pancreatic cancer childhood Pancreatic carcinoma familial Pancreatic islet cell tumors Pancreatic lipomatosis duodenal stenosis Pancreatitis pediatric Pancreatoblastoma PANDAS Panhypopituitarism[personalizedcause.com]

  • Helsmoortel-van der Aa Syndrome

    […] cryptophthalmosGenital and kidney abnormalities, finger webbingAutosomal recessive47 HESX1 3p21.2-p21.1Septo-optic dysplasiaOptic nerve hypoplasiaAgenesis of the corpus callosum, panhypopituitarism[nature.com] Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org] […] developmental delay0 SOX2 6657 206900 Microphthalmia syndromic 3 C1859773 OMIM9733HP:0001263 HP:0001263 Global developmental delay0 SOX3 6658 300123 Mental retardation with panhypopituitarism[mseqdr.org]

  • Smith Lemli Opitz Syndrome

    The main cause of mortality in the first-described cases was acute adrenal insufficiency associated with panhypopituitarism (1).[ajnr.org] 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] A wide spectrum of pituitary abnormalities has been reported subsequently ranging from asymptomatic individuals to panhypopituitarism (11).[ajnr.org]

  • Curry Hall Syndrome

    This early lethality is most likely attributable to panhypopituitarism that is caused by pituitary or hypothalamic dysplasia or severe airway malformations such as laryngotracheal[atlasgeneticsoncology.org] These may include the presence of certain teeth at birth (natal teeth), abnormal folds of movement-limiting mucous membrane tissue in the cheek area of the mouth (buccal frenula[rarediseases.org] dwarfism PROP1 del Happy puppet syndrome, formerly UBE3A del Hauptmann-Thannhauser muscular dystrophy LMNA del Hay-Wells syndrome TP63 ( p63) Head cancer TP63 ( p63) Hearing[uniklinik-freiburg.de]

  • Saethre-Chotzen Syndrome

    Panhypopituitarism, X-linked: Due to the syndrome, there is a reduced excretion of one or more hormones produced by the pituitary gland, which can lead to dwarfsm in children[nipt.ng] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] […] trigonocephaly, unusual facies (up-slanting palpebral fissures, epicanthal folds, strabismus, hypoplastic nasal root), wide alveolar ridges, deep midline palatal furrow, multiple buccal[rrnursingschool.biz]

  • Autosomal Dominant Mandibulofacial Dysostosis with Ptosis

    […] syndrome, type II, 304120 CTNNB1 Ovarian cancer, somatic, 167000 GLI3 Pallister-Hall syndrome, 146510 SMAD4 Pancreatic cancer KRAS Pancreatic carcinoma, somatic, 260350 SOX3 Panhypopituitarism[gsdseq.ir] 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] Waardenburg syndrome, type IIA 193510 AD wide nasal bridge, short philtrum, cleft lip or palate, deafness Pallister-Hall syndrome 146510 AD short nose, flat nasal bridge, multiple buccal[widesmiles2.org]

  • Sener Syndrome

    Results Panhypopituitarism was detected in 38 (71.7%) patients with SS, while partial hypopituitarism was detected in 15 (28.3%) patients.[hindawi.com] She was noted to have dental anomalies with hypodontia, dental occlusions, and several buccal frenulae. She was also noted to have thin hair and nail abnormalities.[jmg.bmj.com] Although the onset of SS can involve acute severe panhypopituitarism in some patients, the majority of SS patients are diagnosed with a clinically subtle partial pituitary[hindawi.com]

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