ODCs

Click node...

Apert syndrome

1 OMIM reference -
1 associated gene
44 connected diseases
45 signs/symptoms

Disease	Type of connection
Lacrimo-auriculo-dento-digital syndrome
Antley-Bixler syndrome
Crouzon disease
Cutis gyrata - acanthosis nigricans - craniosynostosis
FGFR2-related bent bone dysplasia
Familial scaphocephaly syndrome, McGillivray type
Jackson-Weiss syndrome
Pfeiffer syndrome type 1
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Saethre-Chotzen syndrome
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Aplasia of lacrimal and salivary glands
Autosomal agammaglobulinemia
SHORT syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia
Oculootodental syndrome
Otodental syndrome
Acute promyelocytic leukemia
Autosomal dominant hyper-IgE syndrome
Juvenile myelomonocytic leukemia
Laron syndrome with immunodeficiency
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Multiple synostoses syndrome
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Aldosterone-producing adenoma with seizures and neurological abnormalities
Autosomal dominant hypophosphatemic rickets
Hypercalcemic tumoral calcinosis
Sinoatrial node dysfunction and deafness
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis

Synonym(s): - ACS1 - Acrocephalosyndactyly type 1

Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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: D000168

Gene symbol	UniProt reference	OMIM reference
FGFR2	P21802	176943

Very frequent

- Autosomal dominant inheritance
- Brachycephaly / flat occiput
- Conductive deafness / hearing loss
- Depressed nasal bridge
- Flat face
- Frontal bossing / prominent forehead
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Proptosis / exophthalmos
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Turricephaly / oxycephaly / acrocephaly

Frequent

- Beaked nose
- Broad / bifid thumb
- Chronic arterial hypertension
- Corpus callosum / septum pellucidum total / partial agenesis
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Depressed premaxillary region / midface
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High vaulted / narrow palate
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large fontanelle / delayed fontanelle closure
- Prognathism / prognathia
- Strabismus / squint
- Structural anomalies of inner ear / cochlea / vestible / semicircular canals
- Thumb hypoplasia / aplasia / absence
- Vertebral segmentation anomaly / hemivertebrae

Occasional

- Anus ectopia / anteposition / malposition
- Arnold-Chiari anomaly
- Choanal atresia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Cloverleaf skull
- Congenital cardiac anomaly / malformation / cardiopathy
- Corneal ulceration / perforation
- Dilated cerebral ventricles without hydrocephaly
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hydrocephaly
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Ovary / ovarian teratoma / germinoma
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rhizomelic micromelia
- Sensorineural deafness / hearing loss
- Visual loss / blindness / amblyopia