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Autosomal recessive Robinow syndrome
1 OMIM reference -
1 associated gene
81 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 12
Incontinentia pigmenti
1 OMIM reference -
1 associated gene
64 signs/symptoms
Autosomal recessive Robinow syndrome
Incontinentia pigmenti

ROR2
(UniProt - OMIM)
 IKBKG
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
ROR2
(0.56)
IKBKG


Citations in the biomedical literature:


Autosomal recessive Robinow syndrome
ROR2
Incontinentia pigmenti
IKBKG



Autosomal recessive Robinow syndrome
Incontinentia pigmenti

Synonym(s):
- COVESDEM syndrome
- Costovertebral segmentation defect - mesomelia
- RRS
Synonym(s):
- Bloch-Siemens syndrome
- Bloch-Sulzberger syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin 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: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: x-linked dominant
External references:
1 OMIM reference -
1 MeSH reference: C535863
External references:
1 OMIM reference -
1 MeSH reference: D007184
COMMON
SIGNS 		- Alopecia
- Anodontia / oligodontia / hypodontia
- Blue sclerae
- Cleft lip and palate
- Dysplastic / thick / grooved fingernails
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Scoliosis
- Short stature / dwarfism / nanism
- Strabismus / squint
- Syndactyly of fingers / interdigital palm
- Tooth shape anomaly
- Umbilical hernia

Autosomal recessive Robinow syndrome
Incontinentia pigmenti

Very frequent
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Broad nose / nasal bridge
- Clinodactyly of fifth finger
- Dental malocclusion
- Downturned mouth
- Hypertelorism
- Macrostomia / big mouth
- Mesomelic micromelia
- Micropenis / small penis / agenesis
- Mid-facial hypoplasia / short / small midface
- Short hand / brachydactyly
- Short / small nose
- Terminal / third phalangeal bone of fingers hypoplasia
- Vertebral segmentation anomaly / hemivertebrae

Frequent
- Ankyloglossia / lingual synechiae
- Broad / bifid big toe
- Broad / bifid thumb
- Chronic / relapsing otitis
- Cleft / notched / bifid tongue
- Clitoris / labia majora / labia minora / female external genitalia hypoplasia
- Depressed nasal bridge
- Elbow dislocation
- Epicanthic folds
- Euryblepharon / wide palpebral fissures
- Frontal bossing / prominent forehead
- Hearing loss / hypoacusia / deafness
- Kyphosis
- Long philtrum
- Long / thick / curved lashes / trichomegaly / polytrichia
- Low set ears / posteriorly rotated ears
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Pectus excavatum
- Proptosis / exophthalmos
- Rib number anomalies
- Tented upper lip
- Thickened / hypertrophic / fibromatous gingivae
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Anus ectopia / anteposition / malposition
- Atrial septal defect / interauricular communication
- Camptodactyly of fingers
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Carpal bones fusion / synostosis
- Death in infancy
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Exaggerated cupid bows
- High vaulted / narrow palate
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Inguinal / inguinoscrotal / crural hernia
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Multicystic kidney / renal dysplasia
- Oligodactyly / ectrodactyly of fingers
- Pectus carinatum
- Ptosis
- Pulmonary valve atresia / stenosis / narrowing
- Repeat respiratory infections
- Sacral sinus / dimple
- Short neck
- Short philtrum
- Simian crease / transverse / unique palmar crease
- Supernumerary teeth / polyodontia
- Syndactyly of toes
- Tetralogy of Fallot / trilogy of Fallot
- tricuspid valve atresia / stenosis / narrowing
- Ventricular septal defect / interventricular communication
- Wide space between 1st-2nd toes


Very frequent
- Abnormal fingernails
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Absent / small fingernails / anonychia of hands
- Cutaneous rash
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Hair and scalp anomalies
- Irregular / in bands / reticular skin hyperpigmentation
- Irregular / patchy skin hypopigmentation
- Nails anomalies
- Telangiectasiae of the skin
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
- Warts / papillomas
- X-linked dominant inheritance

Frequent
- Abnormal gait
- Anomalies of ear and hearing
- Anomalies of hands
- Anomalies of the ribs
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Chronic skin infection / ulcerations / ulcers / cancrum
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers
- Complete claw hand / camptodactyly of all fingers
- Corneal clouding / opacity / vascularisation
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Eosinophils anomalies / hypereosinophilia
- Hyperactivity / attention deficit
- Hyperhidrosis / increased sweating
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Osteolysis / osteoclasia / bone destruction / erosions
- Supernumerary nipples / polythelia
- Visual loss / blindness / amblyopia

Occasional
- Abnormal toenails
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cataract / lens opacification
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dysplastic / thick / grooved toenails
- Enamel anomaly
- Encephalitis
- Hand agenesis / absence
- Heart / cardiac failure
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia
- Motor deficit / trouble
- Pulmonary hypertension
- Retinal detachment
- Retinal vascular anomalies / retinal telangiectasia
- Retinal / chorioretinal dysplasia / dystrophy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Spina bifida occulta
- Transient cerebral ischemia / stroke