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Familial scaphocephaly syndrome, McGillivray type

1 OMIM reference -
1 associated gene
16 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 8

Pfeiffer syndrome type 2

1 associated gene
34 signs/symptoms

Familial scaphocephaly syndrome, McGillivray type

Pfeiffer syndrome type 2

FGFR2

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	FGFR2

Citations in the biomedical literature:

Familial scaphocephaly syndrome, McGillivray type		Pfeiffer syndrome type 2
	Synonym(s): - Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		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


COMMON SIGNS	- Autosomal dominant inheritance - Broad / bifid big toe - High forehead - High vaulted / narrow palate - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Mid-facial hypoplasia / short / small midface - Syndactyly of toes

Familial scaphocephaly syndrome, McGillivray type		Pfeiffer syndrome type 2
	Very frequent - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Macrocephaly / macrocrania / megalocephaly / megacephaly Frequent - Dental malocclusion - Dolichocephaly / scaphocephaly Occasional - Dilated cerebral ventricles without hydrocephaly - Prognathism / prognathia - Trigonocephaly - Upslanted palpebral fissures / mongoloid slanting palpebral fissures		Very frequent - Arnold-Chiari anomaly - Broad / bifid thumb - Cloverleaf skull - Depressed nasal bridge - 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 - 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 - 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