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Pycnodysostosis

1 OMIM reference -
1 associated gene
42 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Saethre-Chotzen syndrome

1 OMIM reference -
3 associated genes
38 signs/symptoms

Pycnodysostosis

Saethre-Chotzen syndrome

CTSK	(UniProt - OMIM)		FGFR2	(UniProt - OMIM)
			FGFR3	(UniProt - OMIM)
			TWIST1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Pycnodysostosis		Saethre-Chotzen syndrome
	Synonym(s): - Pyknodysostosis		Synonym(s): - ACS3 - Acrocephalosyndactyly type 3 - SCS

	Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: variable Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Short hand / brachydactyly - Short stature / dwarfism / nanism

Pycnodysostosis		Saethre-Chotzen syndrome
	Very frequent - Anomalies of bones / skeletal anomalies - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - Brachycephaly / flat occiput - 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 - Frontal bossing / prominent forehead - High forehead - High vaulted / narrow palate - Hypoplastic mandibula / partial absence of the mandibula - Large fontanelle / delayed fontanelle closure - Mid-facial hypoplasia / short / small midface - Mutiple fractures / bone fragility - Osteolysis / osteoclasia / bone destruction / erosions - Short foot / brachydactyly of toes - 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 - Proptosis / exophthalmos - Tooth shape anomaly - Wormian bones Occasional - Anaemia - Anomalies of skin, subcutaneous tissue and mucosae - Hepatomegaly / liver enlargement (excluding storage disease) - Hydrocephaly - Kyphosis - Lordosis - Nails anomalies - Narrow rib cage / thorax - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Respiratory rhythm disorder - Splenomegaly		Very frequent - Autosomal dominant inheritance - Craniostenosis / craniosynostosis / sutural synostosis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Skull / cranial anomalies - Syndactyly of fingers / interdigital palm Frequent - Beaked nose - Dystonia / torticollis / writer's cramp / blepharospasms - External auditory canal atresia / stenosis / agenesis - External ear anomalies - Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits - Hypertelorism - Low hair line-front - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Ptosis - Simian crease / transverse / unique palmar crease - Strabismus / squint Occasional - Abnormal vertebral size / shape - Apnea / sleep apnea - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Conductive deafness / hearing loss - Congenital cardiac anomaly / malformation / cardiopathy - Cranial hypertension - Early death / lethality - Facial pain / cephalalgia / migraine - Hallux valgus - Hearing loss / hypoacusia / deafness - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Low set ears / posteriorly rotated ears - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Radioulnar synostosis - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Sensorineural deafness / hearing loss - Undescended / ectopic testes / cryptorchidia / unfixed testes - Visual loss / blindness / amblyopia