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Monosomy 9q22.3
1 associated gene
24 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
Acrocapitofemoral dysplasia
1 OMIM reference -
1 associated gene
20 signs/symptoms
Monosomy 9q22.3
Acrocapitofemoral dysplasia

PTCH1
(UniProt - OMIM)
 IHH
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PTCH1
(0.52)
IHH


Citations in the biomedical literature:


Monosomy 9q22.3
PTCH1
Acrocapitofemoral dysplasia
IHH



Monosomy 9q22.3
Acrocapitofemoral dysplasia

Synonym(s):
- Microdeletion 9q22.3
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Pectus excavatum

Monosomy 9q22.3
Acrocapitofemoral dysplasia

Very frequent
- Epicanthic folds
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Hyperactivity / attention deficit
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Microstomia / little mouth
- Short neck
- Strabismus / squint
- 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 recessive inheritance
- Cone epiphyses / epiphysis
- Delayed bone age
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Frequent
- Abnormal vertebral size / shape
- Absent / small fingernails / anonychia of hands
- Genu varum
- Lordosis
- Metacarpal anomalies / Archibald's sign
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality

Occasional
- Narrow rib cage / thorax
- Pectus carinatum
- Scoliosis
- Short rib cage / thorax