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Mesomelia-synostoses syndrome

1 OMIM reference -
2 associated genes
42 signs/symptoms

PROTEIN INTERACTIONS: 1

Hereditary cerebral hemorrhage with amyloidosis, Dutch type

1 OMIM reference -
1 associated gene
8 signs/symptoms

Mesomelia-synostoses syndrome

Hereditary cerebral hemorrhage with amyloidosis, Dutch type

SLCO5A1	(UniProt - OMIM)		APP	(UniProt - OMIM)
SULF1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SULF1	(0.56)	APP

Citations in the biomedical literature:

Mesomelia-synostoses syndrome		Hereditary cerebral hemorrhage with amyloidosis, Dutch type
	Synonym(s): - 8q13 microdeletion syndrome - Del(8)q(13) - Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type - Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type - Monosomy 8q13 - Verloes-David syndrome		Synonym(s): - HCHWA, Dutch type - HCHWA-D

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	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: adulthood Average age of death: adult Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 2 MeSH references: C537944 / D028243

Mesomelia-synostoses syndrome		Hereditary cerebral hemorrhage with amyloidosis, Dutch type
	Very frequent - Anomalies of hands - Autosomal dominant inheritance - Carpal bones fusion / synostosis - Clinodactyly of fifth finger - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Foot anomalies - High vaulted / narrow palate - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Hypoplastic / aplastic uvula - Mesomelic micromelia - Metacarpal anomalies / Archibald's sign - Micrognathia / retrognathia / micrognathism / retrognathism - Ptosis - Restricted joint mobility / joint stiffness / ankylosis - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Small foot - Synostosis - Tarsal anomaly / fusion / synostosis - Telecanthus / canthal dystopy - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly - Ulnar deviation of fingers - Wrist / carpal anomalies Frequent - Femur anomaly / absence / agenesis / hypoplasia / bifurcation Occasional - Ankle anomalies - Beaked nose - Congenital cardiac anomaly / malformation / cardiopathy - Eyebrows anomalies - Flat cheek bones / malar hypoplasia - Genu valgum - Hearing loss / hypoacusia / deafness - Knee anomalies (excluding patella) - Long philtrum - Long / large / bulbous nose - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Microstomia / little mouth - Myopia - Oral synechiae / abnormal frenulae - Triangular face - Umbilical hernia		Very frequent - Facial pain / cephalalgia / migraine - Intracranial / cerebral / meningeal hemorrhage - Psychic / behavioural troubles - Psychic / psychomotor regression / dementia / intellectual decline Frequent - Intracranial / cerebral calcifications - Seizures / epilepsy / absences / spasms / status epilepticus - Transient cerebral ischemia / stroke Occasional - Early death / lethality