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14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
21 signs/symptoms
Semilobar holoprosencephaly
Hartsfield-Bixler-Demyer syndrome

CDON FGFR1
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
(0.55)
FGFR1



Citations in the biomedical literature:


Semilobar holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Hartsfield-Bixler-Demyer syndrome
FGFR1



Semilobar holoprosencephaly
Hartsfield-Bixler-Demyer syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Holoprosencephaly - ectrodactyly - cleft lip palate

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic 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: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

Hartsfield-Bixler-Demyer syndrome

Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Corpus callosum / septum pellucidum total / partial agenesis
- Craniostenosis / craniosynostosis / sutural synostosis
- Depressed nasal bridge
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Encephalocele / exencephaly
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hypertelorism
- Intrauterine growth retardation
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Low set ears / posteriorly rotated ears
- Oligodactyly / ectrodactyly of fingers
- Ptosis
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Single nare / abouphalia
- Stillbirth / neonatal death
- Telecanthus / canthal dystopy

Frequent
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Trident hand / split hand / abnormal median ray



Semilobar holoprosencephaly

(no data available)