ODCs

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Cabezas syndrome

1 OMIM reference -
1 associated gene
23 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Ehlers-Danlos syndrome, kyphoscoliotic type

1 OMIM reference -
1 associated gene
27 signs/symptoms

Cabezas syndrome

Ehlers-Danlos syndrome, kyphoscoliotic type

CUL4B

(UniProt - OMIM)

PLOD1

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CUL4B	(0.63)	PLOD1

Citations in the biomedical literature:

Cabezas syndrome		Ehlers-Danlos syndrome, kyphoscoliotic type
	Synonym(s): - X-linked intellectual deficit, Cabezas type		Synonym(s): - EDS VIA - EDS, kyphoscoliotic type - EDS, oculoscoliotic type - Ehlers-Danlos syndrome type 6A - Ehlers-Danlos syndrome, oculoscoliotic type

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

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

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

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


COMMON SIGNS	- Abnormal gait - Hyperextensible joints / articular hyperlaxity - Inguinal / inguinoscrotal / crural hernia - Kyphosis

Cabezas syndrome		Ehlers-Danlos syndrome, kyphoscoliotic type
	Very frequent - Intellectual deficit / mental / psychomotor retardation / learning disability - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Blepharophimosis / short palpebral fissures - Everted lower lip - Generalized obesity - Macrocephaly / macrocrania / megalocephaly / megacephaly - Pes cavus - Seizures / epilepsy / absences / spasms / status epilepticus - Short foot / brachydactyly of toes - Short stature / dwarfism / nanism - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia - Tremor - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy - Wide space between 1st-2nd toes Occasional - Acanthosis nigricans - Hyperhidrosis / increased sweating - Immunodeficiency / increased susceptibility to infections / recurrent infections - Late puberty / hypogonadism / hypogenitalism - Syndactyly of toes		Very frequent - Abnormal scarring / cheloids / hypertrophic scars - Aortic dissection - Arterial rupture - Autosomal recessive inheritance - Fragility of the eye globe - Hypotonia - Joint dislocation / subluxation - Metabolic anomalies - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Myopia - Scoliosis Frequent - Glaucoma - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hyperelastic skin / cutaneous hyperlaxity - Keratoconus / keratoglobus - Microcornea - Mucosal / cutaneous hemorrhage - Retinal detachment - Retinopathy - Visual loss / blindness / amblyopia Occasional - Corneal dystrophy - Talipes-varus / metatarsal varus