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1 OMIM reference -
1 associated gene
29 signs/symptoms
PROTEIN INTERACTIONS: 2
COMMON SIGNS: 3
17 OMIM references -
19 associated genes
44 signs/symptoms
Crouzon syndrome - acanthosis nigricans
Kallmann syndrome

FGFR3 CHD7
DUSP6
FGF17
FGF8
FGFR1
FLRT3
HESX1
HS6ST1
IL17RD
KAL1
KISS1R
NSMF
PROK2
PROKR2
SEMA3A
SOX10
SPRY4
TACR3
WDR11


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGFR3
FGFR3
(0.73)
(0.52)
FGF8
FGF17



Citations in the biomedical literature:


Crouzon syndrome - acanthosis nigricans
FGFR3
Kallmann syndrome
CHD7 DUSP6 FGF17 FGF8 FGFR1 FLRT3
HESX1 HS6ST1 IL17RD KAL1 KISS1R NSMF
PROK2 PROKR2 SEMA3A SOX10 SPRY4 TACR3
WDR11



Crouzon syndrome - acanthosis nigricans
Kallmann syndrome

Synonym(s):
- Crouzono-dermoskeletal syndrome

Synonym(s):
- Congenital hypogonadotropic hypogonadism with anosmia
- Olfacto-genital pathological sequence

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -

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 / 100 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
17 OMIM references -
1 MeSH reference: D017436


COMMON
SIGNS
- Autosomal dominant inheritance
- Ptosis
- Visual loss / blindness / amblyopia


Crouzon syndrome - acanthosis nigricans
Kallmann syndrome

Very frequent
- Acanthosis nigricans
- Frontal bossing / prominent forehead
- High forehead

Frequent
- Abnormal vertebral size / shape
- Arnold-Chiari anomaly
- Brachycephaly / flat occiput
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Choanal atresia
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Conductive deafness / hearing loss
- 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
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Autosomal recessive inheritance
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Impotence / painful erection / priapism / erection troubles
- Late puberty / hypogonadism / hypogenitalism
- Micropenis / small penis / agenesis
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- Sterility / hypofertility
- X-linked recessive inheritance

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Breast tissue / mammary gland absence / aplasia
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Primary amenorrhea
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Abnormal gait
- Achromatopsia / dyschromatopsia / daltonism / impaired colour vision
- Agenesis / hypoplasia / aplasia of kidneys
- Anodontia / oligodontia / hypodontia
- Ataxia / incoordination / trouble of the equilibrium
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Congenital cardiac anomaly / malformation / cardiopathy
- Delayed bone age
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Dyspareunia / coital pain / vaginal dryness
- Elocution disorders / dysarthria / dysphonia
- Generalized obesity
- Gynecomastia / breast / mammary gland enlargement / hyperplasia
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Hypotonia
- Ichthyosis / ichthyosiform dermatitis
- Metrorrhagia / menorrhagia / hemorrhagic cycles / hyper / poly / spanio / dysmenorrhea
- Movement disorder
- Muscle weakness / flaccidity
- Mutiple fractures / bone fragility
- Nystagmus
- Pes cavus
- Pes talus
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss
- Tremor
- Uterine / uterus / Fallopian tubes anomalies