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Pfeiffer syndrome type 1

2 associated genes
20 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 3

Hartsfield-Bixler-Demyer syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

Pfeiffer syndrome type 1

Hartsfield-Bixler-Demyer syndrome

FGFR1	(UniProt - OMIM)		FGFR1	(UniProt - OMIM)
FGFR2	(UniProt - OMIM)


COMMON GENES	FGFR1

Citations in the biomedical literature:

Pfeiffer syndrome type 1		Hartsfield-Bixler-Demyer syndrome
	Synonym(s): - Classic Pfeiffer syndrome		Synonym(s): - Holoprosencephaly - ectrodactyly - cleft lip palate

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant		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


COMMON SIGNS	- Depressed nasal bridge - Hypertelorism - Low set ears / posteriorly rotated ears

Pfeiffer syndrome type 1		Hartsfield-Bixler-Demyer syndrome
	Very frequent - Autosomal dominant inheritance - Brachycephaly / flat occiput - Broad / bifid big toe - Broad / bifid thumb - High forehead - High vaulted / narrow palate - Mid-facial hypoplasia / short / small midface - Short big toe - Short / small nose - Thumb hypoplasia / aplasia / absence Frequent - Proptosis / exophthalmos - Short foot / brachydactyly of toes - Short hand / brachydactyly - Syndactyly of fingers / interdigital palm - Syndactyly of toes Occasional - Hearing loss / hypoacusia / deafness - Stenosis of aqueduc of Sylvius		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 - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Encephalocele / exencephaly - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Intrauterine growth retardation - Lateral cleft lip / gingival cleft / paramedian nasal cleft - 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