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Opsismodysplasia
1 OMIM reference -
1 associated gene
55 connected diseases
27 signs/symptoms
Disease Type of connection
Epidermolytic palmoplantar keratoderma
Pachyonychia congenita
Precursor T-cell acute lymphoblastic leukemia
Annular epidermolytic ichthyosis
Congenital fibrosis of extraocular muscles
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolytic ichthyosis
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Localized epidermolysis bullosa simplex
Familial papillary renal cell carcinoma
Hepatocellular carcinoma, childhood-onset
Juvenile myelomonocytic leukemia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Chronic myeloid leukemia
Giant cell glioblastoma
Gliosarcoma
Precursor B-cell acute lymphoblastic leukemia
Hyperinsulinism due to INSR deficiency
Insulin-resistance syndrome type A
Leprechaunism
Rabson-Mendenhall syndrome
Distal myopathy with posterior leg and anterior hand involvement
Muscle filaminopathy
Autosomal agammaglobulinemia
Complete androgen insensitivity syndrome
Familial hypospadias
Isolated 3-methylcrotonyl-CoA carboxylase deficiency
Kennedy disease
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Partial androgen insensitivity syndrome
Propionic acidemia
SHORT syndrome
46,XY partial gonadal dysgenesis
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Anauxetic dysplasia
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Autosomal recessive epidermolysis bullosa simplex
Blackfan-Diamond anemia
Common variable immunodeficiency
Congenital reticular ichthyosiform erythroderma
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Dermatopathia pigmentosa reticularis
Dowling-Degos disease
Epidermolysis bullosa simplex with circinate migratory erythema
Ichthyosis hystrix of Curth-Macklin
Keratosis palmoplantaris striata
Meesmann corneal dystrophy
Naegeli-Franceschetti-Jadassohn syndrome
Polymicrogyria due to TUBB2B mutation
Pontocerebellar hypoplasia type 9
Sebocystomatosis
Superficial epidermolytic ichthyosis
Williams syndrome
Synonym(s):
(no synonyms)
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 recessive
External references:
1 OMIM reference -
1 MeSH reference: C537122
Gene symbol UniProt reference OMIM reference
INPPL1 O15357600829
Very frequent
- Abnormal vertebral size / shape
- Autosomal recessive inheritance
- Delayed bone age
- Depressed nasal bridge
- Epiphyseal anomaly
- Frontal bossing / prominent forehead
- Lack / delayed ossification of spine / vertebrae
- Large fontanelle / delayed fontanelle closure
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metaphyseal anomaly
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rhizomelic micromelia
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Short / small nose
- Tapered fingers

Frequent
- Brachycephaly / flat occiput
- Hypotonia
- Repeat respiratory infections

Occasional
- Blue sclerae
- Broad / bifid thumb
- Hepatomegaly / liver enlargement (excluding storage disease)
- Narrow rib cage / thorax
- Pectus excavatum
- Restricted joint mobility / joint stiffness / ankylosis
- Splenomegaly