Pfeiffer syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, brachycephaly, midface hypoplasia, and broad and deviated thumbs and great toes. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three subtypes. Type 1 involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities. It is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Mutations of the FGFR1 gene or FGFR2 gene can cause Pfeiffer syndrome.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H01756 Pfeiffer syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06526 MAPK signaling
H01756 Pfeiffer syndrome
Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. Other frequent complications include cleft palate and learning disability. Over 98% of cases are caused by specific missense mutations of FGFR2, either Ser252Trp or Pro253Arg.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H01755 Apert syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06526 MAPK signaling
H01755 Apert syndrome
Crouzon syndrome (CS) is an autosomal dominant disorder characterized by generalized craniosynostoses, maxillary hypoplasia, widely spaced but shallow orbits with prominent globes. Heterozygous mutations of FGFR2 cause three classical craniosynostosis syndromes, Apert, Crouzon and Pfeiffer. Crouzon syndrome is usually the mildest of the FGFR2-associated disorders and the clinical diagnosis is suggested by the combination of characteristic facies and absence of major abnormalities of the hands and feet. It has also been reported that a mutation of FGFR3 gene causes Crouzon syndrome with acanthosis nigricans (CAN).
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H01754 Crouzon syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06526 MAPK signaling
H01754 Crouzon syndrome
Jackson-Weiss syndrome (JWS) is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. While mutations of multiple genes have been identified in syndromic craniosynostosis, the most frequently mutated gene is FGFR2. Mutations of FGFR1 have occasionally been identified in JWS.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H01988 Jackson-Weiss syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06526 MAPK signaling
H01988 Jackson-Weiss syndrome
Beare-Stevenson cutis gyrata syndrome (BSTVS) is an extremely rare autosomal dominant condition characterized by the furrowed skin disorder called cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death. Mutations of FGFR2 have been identified.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H01989 Beare-Stevenson syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06526 MAPK signaling
H01989 Beare-Stevenson syndrome
Saethre-Chotzen syndrome (SCS) is an autosomal dominant disease characterized by craniosynostosis, ptosis, and limb and external ear abnormalities. Mutations in the TWIST gene have been extensively reported in SCS. In addition, mutations in FGFR2 were also detected.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H01991 Saethre-Chotzen syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06526 MAPK signaling
H01991 Saethre-Chotzen syndrome
Antley-Bixler syndrome (ABS) is a rare craniosynostosis syndrome characterized by radiohumeral synostosis. There is a wide spectrum of anomalies seen in ABS. Other features include midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Two genetically distinctive forms have been observed. Type 1 ABS involves mutations in the FGFR2 gene without impairment of steroidogenesis. Type 1 ABS patients are with the most severe skeletal abnormalities but normal genitalia. Type 2 ABS involves mutations in the gene encoding cytochrome P450 oxidoreductase (POR), an enzyme which plays a direct role in steroidogenesis. Type 2 ABS is an autosomal recessive disorder, and it is associated with abnormal genitalia in both sexes due to impaired steroidogenesis. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H01753 Antley-Bixler syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06526 MAPK signaling
H01753 Antley-Bixler syndrome
High doses of fluconazole taken during the first trimester of pregnancy may be associated with Antley-Bixler syndrome.
See also H00458 Craniosynostosis.
