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Monosomy 9q22.3

1 associated gene
24 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

Gorlin syndrome

1 OMIM reference -
1 associated gene
28 signs/symptoms

Monosomy 9q22.3

Gorlin syndrome

PTCH1

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	PTCH1

Citations in the biomedical literature:

Monosomy 9q22.3		Gorlin syndrome
	Synonym(s): - Microdeletion 9q22.3		Synonym(s): - Basal cell nevus syndrome - NBCCS - Nevoid basal cell carcinoma syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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: no data available Type of inheritance: sporadic		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adolescence / young Average age of death: normal Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Epicanthic folds - Intellectual deficit / mental / psychomotor retardation / learning disability - Strabismus / squint

Monosomy 9q22.3		Gorlin syndrome
	Very frequent - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hyperactivity / attention deficit - Hypotonia - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Microstomia / little mouth - Pectus excavatum - Short neck - Tall stature / gigantism / growth acceleration - Trigonocephaly - Umbilical hernia Frequent - Advanced bone age - Bifid / cleft ear lobe / ear lobe pits - Corpus callosum / septum pellucidum total / partial agenesis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dilated cerebral ventricles without hydrocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hyperextensible joints / articular hyperlaxity - Kyphosis - Seizures / epilepsy / absences / spasms / status epilepticus - Thick / wide ear lobe		Very frequent - Autosomal dominant inheritance - Dermoid sinus / dimple / pit (excluding sacral) - Intracranial / cerebral calcifications - Neoplasms / tumors - Pigmented naevi / naevus pigmentosus / lentigo Frequent - Abnormal vertebral size / shape - Anomalies of the neck - Broad nasal root - Scoliosis - Short hand / brachydactyly Occasional - Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia - Brachycephaly / flat occiput - Cataract / lens opacification - Coloboma of iris - Frontal bossing / prominent forehead - Glaucoma - Hydrocephaly - Hypertelorism - Late puberty / hypogonadism / hypogenitalism - Long hand / arachnodactyly - Multiple caries - Prognathism / prognathia - Telecanthus / canthal dystopy - Undescended / ectopic testes / cryptorchidia / unfixed testes - Vertebral segmentation anomaly / hemivertebrae