ODCs

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Crouzon syndrome - acanthosis nigricans

1 OMIM reference -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8

Pycnodysostosis

1 OMIM reference -
1 associated gene
42 signs/symptoms

Crouzon syndrome - acanthosis nigricans

Pycnodysostosis

FGFR3

(UniProt - OMIM)

CTSK

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR3	(0.63)	CTSK

Citations in the biomedical literature:

Crouzon syndrome - acanthosis nigricans		Pycnodysostosis
	Synonym(s): - Crouzono-dermoskeletal syndrome		Synonym(s): - Pyknodysostosis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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 dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D058631


COMMON SIGNS	- Brachycephaly / flat occiput - Frontal bossing / prominent forehead - High forehead - High vaulted / narrow palate - Hydrocephaly - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Short hand / brachydactyly

Crouzon syndrome - acanthosis nigricans		Pycnodysostosis
	Very frequent - Acanthosis nigricans - Autosomal dominant inheritance Frequent - Abnormal vertebral size / shape - Arnold-Chiari anomaly - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Choanal atresia - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Conductive deafness / hearing loss - Cranial hypertension - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Metacarpal anomalies / Archibald's sign - Ptosis - Strabismus / squint - Turricephaly / oxycephaly / acrocephaly Occasional - Beaked nose - Facial pain / cephalalgia / migraine - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Sacro-coccyx / sacrum anomaly - Visual loss / blindness / amblyopia		Very frequent - Anomalies of bones / skeletal anomalies - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - Clavicle absent / abnormal - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Dysplastic / thick / grooved fingernails - Epiphyseal anomaly - Face / facial anomalies - Hypoplastic mandibula / partial absence of the mandibula - Large fontanelle / delayed fontanelle closure - Mutiple fractures / bone fragility - Osteolysis / osteoclasia / bone destruction / erosions - Short foot / brachydactyly of toes - Short stature / dwarfism / nanism - Terminal / third phalangeal bone of fingers hypoplasia Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Absent / small fingernails / anonychia of hands - Blue sclerae - Bone pain - Tooth shape anomaly - Wormian bones Occasional - Anaemia - Anomalies of skin, subcutaneous tissue and mucosae - Hepatomegaly / liver enlargement (excluding storage disease) - Intellectual deficit / mental / psychomotor retardation / learning disability - Kyphosis - Lordosis - Nails anomalies - Narrow rib cage / thorax - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Respiratory rhythm disorder - Splenomegaly