ODCs

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Pallister-Hall syndrome

1 OMIM reference -
2 associated genes
39 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

Shprintzen-Goldberg syndrome

1 OMIM reference -
2 associated genes
55 signs/symptoms

Pallister-Hall syndrome

Shprintzen-Goldberg syndrome

GLI3	(UniProt - OMIM)		FBN1	(UniProt - OMIM)
TCF4	(UniProt - OMIM)		SKI	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GLI3	(0.83)	SKI

Citations in the biomedical literature:

Pallister-Hall syndrome		Shprintzen-Goldberg syndrome
	Synonym(s): - Hypothalamic hamartoblastoma syndrome		Synonym(s): - Marfanoid craniosynostosis syndrome - SGS

	Classification (Orphanet): - Rare abdominal surgical disease - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare renal disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Neoplasms -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D054975		External references: 1 OMIM reference - 1 MeSH reference: C537328


COMMON SIGNS	- Abnormal vertebral size / shape - Autosomal dominant inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - Undescended / ectopic testes / cryptorchidia / unfixed testes

Pallister-Hall syndrome		Shprintzen-Goldberg syndrome
	Very frequent - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Intrauterine growth retardation - Postaxial polydactyly (hand) Frequent - Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cortico-adrenal hypoplasia / insufficiency - Depressed nasal bridge - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Mesomelic micromelia - Microglossia / aglossia / hypoglossia / tongue hypoplasia - Micropenis / small penis / agenesis - Multicystic kidney / renal dysplasia - Short / small nose - Syndactyly of fingers / interdigital palm - Tracheo-esophageal fistula / esophageal atresia / stenosis Occasional - Agenesis / hypoplasia / aplasia of kidneys - Cardiac valvulopathy - Corpus callosum / septum pellucidum total / partial agenesis - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Oral synechiae / abnormal frenulae - Patent ductus arteriosus - Postaxial polydactyly of toes / fifth supernumerary toe - Precocious puberty - Psychic / behavioural troubles - Seizures / epilepsy / absences / spasms / status epilepticus - Short hand / brachydactyly - Stillbirth / neonatal death - Syndactyly of toes - Thyroid anomalies - Ventricular septal defect / interventricular communication		Very frequent - Dolichocephaly / scaphocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Flat foot - High vaulted / narrow palate - Hypertelorism - Hypotonia - Long hand / arachnodactyly - Marfanoid morphotype - Proptosis / exophthalmos - Telecanthus / canthal dystopy Frequent - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Camptodactyly of some fingers - Communicating hydrocephaly - Craniostenosis / craniosynostosis / sutural synostosis - Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes - Frontal bossing / prominent forehead - High forehead - Hyperextensible joints / articular hyperlaxity - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Inguinal / inguinoscrotal / crural hernia - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Pectus carinatum - Pectus excavatum - Ptosis - Scoliosis - Strabismus / squint - Talipes-varus / metatarsal varus - Umbilical hernia Occasional - Absent / hypotonic / flaccid abdominal wall muscles - Anteverted nares / nostrils - Apnea / sleep apnea - Arnold-Chiari anomaly - Bowed diaphysis / diaphyses / long bones - Conductive deafness / hearing loss - Dilated cerebral ventricles without hydrocephaly - Elbow dislocation - Failure to thrive / difficulties for feeding in infancy / growth delay - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Genu valgum - Hyperelastic skin / cutaneous hyperlaxity - Large fontanelle / delayed fontanelle closure - Metaphyseal anomaly - Microcephaly - Myopia - Narrow rib cage / thorax - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Prominent / bat ears - Restricted joint mobility / joint stiffness / ankylosis - Rib number anomalies