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Pfeiffer syndrome type 1

2 associated genes
79 connected diseases
20 signs/symptoms

Disease	Type of connection
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Lacrimo-auriculo-dento-digital syndrome
Antley-Bixler syndrome
Apert syndrome
Crouzon disease
Cutis gyrata - acanthosis nigricans - craniosynostosis
FGFR2-related bent bone dysplasia
Familial scaphocephaly syndrome, McGillivray type
Giant cell glioblastoma
Gliosarcoma
Hartsfield-Bixler-Demyer syndrome
Isolated trigonocephaly
Jackson-Weiss syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Oligodontia
Osteoglophonic dwarfism
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Pilocytic astrocytoma
Saethre-Chotzen syndrome
Septo-optic dysplasia
Autosomal agammaglobulinemia
SHORT syndrome
Autosomal dominant hyper-IgE syndrome
Alobar holoprosencephaly
Deafness with labyrinthine aplasia, microtia, and microdontia
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Multiple synostoses syndrome
Oculootodental syndrome
Otodental syndrome
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Autosomal dominant hypophosphatemic rickets
Hypercalcemic tumoral calcinosis
Aplasia of lacrimal and salivary glands
Coffin-Lowry syndrome
X-linked non-syndromic intellectual deficit
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Acute promyelocytic leukemia
Autosomal dominant nonsyndromic intellectual deficit
B-cell chronic lymphocytic leukemia
Budd-Chiari syndrome
Craniopharyngioma
Desmoid tumor
Essential thrombocythemia
Familial gastric cancer
Familial thrombocytosis
Gastric linitis plastica
Hepatocellular carcinoma, childhood-onset
Juvenile myelomonocytic leukemia
Laron syndrome with immunodeficiency
Lethal congenital contracture syndrome type 2
Myelofibrosis with myeloid metaplasia
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Pilomatrixoma
Polycythemia vera
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
Cherubism
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
Aldosterone-producing adenoma with seizures and neurological abnormalities
Hereditary gingival fibromatosis
Noonan syndrome
Sinoatrial node dysfunction and deafness
Autosomal recessive lymphoproliferative disease
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis

Synonym(s): - Classic Pfeiffer syndrome

Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		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		External references: No OMIM references No MeSH references

Gene symbol	UniProt reference	OMIM reference
FGFR1	P11362	136350
FGFR2	P21802	176943

Very frequent

- Autosomal dominant inheritance
- Brachycephaly / flat occiput
- Broad / bifid big toe
- Broad / bifid thumb
- Depressed nasal bridge
- High forehead
- High vaulted / narrow palate
- Hypertelorism
- Mid-facial hypoplasia / short / small midface
- Short big toe
- Short / small nose
- Thumb hypoplasia / aplasia / absence

Frequent

- Low set ears / posteriorly rotated ears
- 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