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1 OMIM reference -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 associated gene
34 signs/symptoms
Microform holoprosencephaly
Pfeiffer syndrome type 2

CDON FGFR2
DISP1
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGF8
(0.62)
FGFR2



Citations in the biomedical literature:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Pfeiffer syndrome type 2
FGFR2



Microform holoprosencephaly
Pfeiffer syndrome type 2

Synonym(s):
- Microform HPE

Synonym(s):
(no synonyms)

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease

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

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: adult
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

Pfeiffer syndrome type 2

Very frequent
- Arnold-Chiari anomaly
- Autosomal dominant inheritance
- Broad / bifid big toe
- Broad / bifid thumb
- Cloverleaf skull
- Depressed nasal bridge
- High forehead
- High vaulted / narrow palate
- Hypertelorism
- Mid-facial hypoplasia / short / small midface
- Proptosis / exophthalmos
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Restricted joint mobility / joint stiffness / ankylosis
- Short big toe
- Short / small nose
- Thumb hypoplasia / aplasia / absence

Frequent
- Choanal atresia
- External auditory canal atresia / stenosis / agenesis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Laryngomalacia
- Low set ears / posteriorly rotated ears
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Stenosis of aqueduc of Sylvius
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Tracheomalacia / tracheobronchomalacia

Occasional
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Cranial hypertension
- Early death / lethality
- Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula
- Intestinal / gut / bowel malrotation
- Visual loss / blindness / amblyopia


Microform holoprosencephaly

(no data available)