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1 OMIM reference -
1 associated gene
24 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
40 signs/symptoms
Otopalatodigital syndrome type 1
SHORT syndrome

FLNA PIK3R1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FLNA
(0.63)
PIK3R1



Citations in the biomedical literature:


Otopalatodigital syndrome type 1
FLNA
SHORT syndrome
PIK3R1



Otopalatodigital syndrome type 1
SHORT syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Aarskog-Ose-Pande syndrome
- Lipodystrophy - Rieger anomaly - diabetes
- Rieger anomaly - partial lipodystrophy

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease

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

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: x-linked dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537327


COMMON
SIGNS
- Hypertelorism
- Prominent supraorbital ridge
- Short hand / brachydactyly


Otopalatodigital syndrome type 1
SHORT syndrome

Very frequent
- Anodontia / oligodontia / hypodontia
- Broad nose / nasal bridge
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Hearing loss / hypoacusia / deafness
- Restricted joint mobility / joint stiffness / ankylosis
- Short big toe
- Wide space between 1st-2nd toes
- X-linked recessive inheritance

Frequent
- Bowed diaphysis / diaphyses / long bones
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Elbow dislocation
- Frontal sinus agenesis / anomaly
- Metacarpal anomalies / Archibald's sign
- Osteosclerosis / osteopetrosis / bone condensation
- Proximally set thumb
- Terminal / third phalangeal bone of fingers hypoplasia
- Thumb hypoplasia / aplasia / absence

Occasional
- Anomalies of spine, vertebrae and pelvis
- Carpal bones fusion / synostosis
- Tarsal anomaly / fusion / synostosis


Very frequent
- Aniridia / iris hypoplasia
- Anterior chamber anomaly
- Autosomal dominant inheritance
- Deepset eyes / enophthalmos
- Hyperextensible joints / articular hyperlaxity
- Inguinal / inguinoscrotal / crural hernia
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism

Frequent
- Abnormal fat distribution / lipodystrophy
- Anomalies of teeth and dentition
- Complete / partial microdontia
- Diabetes mellitus
- Enamel anomaly
- Face / facial anomalies
- Glaucoma
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Insulin resistance
- Megalocornea
- Mid-facial hypoplasia / short / small midface
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Rippled skin
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Weight loss / loss of appetite / break in weight curve / general health alteration

Occasional
- Broad nasal root
- Clinodactyly of fifth finger
- Corneal clouding / opacity / vascularisation
- Embryotoxon
- Flat cheek bones / malar hypoplasia
- Frontal bossing / prominent forehead
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Iridocorneal dysgenesis / iridogoniodysgenesis
- Micrognathia / retrognathia / micrognathism / retrognathism
- Myotonia
- Telecanthus / canthal dystopy
- Triangular face
- Upper limb polydactyly / hexadactyly
- Urinary / renal lithiasis / kidney stones / nephritic colic