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1 OMIM reference -
1 associated gene
29 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 7
1 OMIM reference -
3 associated genes
52 signs/symptoms
Crouzon syndrome - acanthosis nigricans
Lacrimo-auriculo-dento-digital syndrome

FGFR3 FGF10
FGFR2
FGFR3


COMMON
GENES
FGFR3



Citations in the biomedical literature:


Crouzon syndrome - acanthosis nigricans
FGFR3
Lacrimo-auriculo-dento-digital syndrome
FGF10 FGFR2



Crouzon syndrome - acanthosis nigricans
Lacrimo-auriculo-dento-digital syndrome

Synonym(s):
- Crouzono-dermoskeletal syndrome

Synonym(s):
- LADD syndrome
- LARD syndrome
- Lacrimo-auriculo-radio-dental syndrome
- Levy-Hollister syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare odontologic disease
- Rare otorhinolaryngologic 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 dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance
- Choanal atresia
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Conductive deafness / hearing loss
- High forehead
- Ptosis
- Visual loss / blindness / amblyopia


Crouzon syndrome - acanthosis nigricans
Lacrimo-auriculo-dento-digital syndrome

Very frequent
- Acanthosis nigricans
- Frontal bossing / prominent forehead

Frequent
- Abnormal vertebral size / shape
- Arnold-Chiari anomaly
- Brachycephaly / flat occiput
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cranial hypertension
- Hydrocephaly
- Hypertelorism
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Metacarpal anomalies / Archibald's sign
- Mid-facial hypoplasia / short / small midface
- Proptosis / exophthalmos
- Short hand / brachydactyly
- Strabismus / squint
- Turricephaly / oxycephaly / acrocephaly

Occasional
- Beaked nose
- Facial pain / cephalalgia / migraine
- High vaulted / narrow palate
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sacro-coccyx / sacrum anomaly


Very frequent
- Broad / bifid thumb
- Clinodactyly of toes
- Complete / partial microdontia
- Congenital alacrimia
- Defect / anomaly of lacrimal system
- Enamel anomaly
- External ear anomalies
- Fingerlike / triphalangeal thumb
- Folded helix
- Small / hypoplastic / adherent / absent ear lobe
- Tooth shape anomaly

Frequent
- Anodontia / oligodontia / hypodontia
- Anomaly / ectopia / hypoplasia / atresia of salivary glands / salivary duct
- Antihelix anomaly
- Broad / bifid big toe
- Clinodactyly of fifth finger
- Corneal ulceration / perforation
- Long / large / bulbous nose
- Low set ears / posteriorly rotated ears
- Mouth dryness / xerostomia
- Multiple caries
- Oral synechiae / abnormal frenulae
- Preaxial polydactyly (hand)
- Sensorineural deafness / hearing loss
- Syndactyly of fingers / interdigital palm
- Telecanthus / canthal dystopy
- Thumb anomalies (excluding hypoplasia)

Occasional
- Agenesis / hypoplasia / aplasia of kidneys
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- Broad forehead
- Cleft lip and palate
- Deepset eyes / enophthalmos
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hypospadias / epispadias / bent penis
- Large fontanelle / delayed fontanelle closure
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nephrosclerosis
- Radial club hand
- Radioulnar synostosis
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Renal disease / nephropathy
- Rib structure anomalies
- Stillbirth / neonatal death
- Taurodontia
- Thumb hypoplasia / aplasia / absence