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Mesomelia-synostoses syndrome
1 OMIM reference -
2 associated genes
7 connected diseases
42 signs/symptoms
Disease Type of connection
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont 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
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SLCO5A1 Q9H2Y9613543
SULF1 Q8IWU6610012
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