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14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
2 associated genes
42 signs/symptoms
Semilobar holoprosencephaly
Cutis gyrata - acanthosis nigricans - craniosynostosis

CDON FGFR2
DISP1 FGFR3
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGF8
FGF8
(0.73)
(0.62)
FGFR3
FGFR2



Citations in the biomedical literature:


Semilobar holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Cutis gyrata - acanthosis nigricans - craniosynostosis
FGFR2 FGFR3



Semilobar holoprosencephaly
Cutis gyrata - acanthosis nigricans - craniosynostosis

Synonym(s):
(no synonyms)

Synonym(s):
- Beare-Stevenson cutis gyrata syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: 1-9 / 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: neonatal/infancy
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

Cutis gyrata - acanthosis nigricans - craniosynostosis

Very frequent
- Acanthosis nigricans
- Anodontia / oligodontia / hypodontia
- Anomalies of ear and hearing
- Anomalies of skin, subcutaneous tissue and mucosae
- Autosomal dominant inheritance
- Choanal atresia
- Depressed nasal bridge
- Depressed premaxillary region / midface
- Dolichocephaly / scaphocephaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Face / facial anomalies
- Flat cheek bones / malar hypoplasia
- Long / large ear
- Mid-facial hypoplasia / short / small midface
- Palmoplantar hyperkeratosis / keratoderma
- Pigmented naevi / naevus pigmentosus / lentigo
- Proptosis / exophthalmos
- Ptosis
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Skull / cranial anomalies
- Small / hypoplastic / adherent / absent ear lobe
- Structural anomalies of the pancreas
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Turricephaly / oxycephaly / acrocephaly
- Visceral angiomatosis (excluding skin)

Frequent
- Bifid scrotum
- Craniostenosis / craniosynostosis / sutural synostosis
- High vaulted / narrow palate
- Horizontal folds on scrotum

Occasional
- Anomalies of eyes and vision
- Anteverted nares / nostrils
- Anus ectopia / anteposition / malposition
- Chronic arterial hypertension
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Helix thickened / sculpted
- Hydrocephaly
- Hypertelorism
- Microstomia / little mouth
- Nails anomalies
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Umbilical hernia
- Undescended / ectopic testes / cryptorchidia / unfixed testes


Semilobar holoprosencephaly

(no data available)