TWIST2 gene related symptoms and diseases

Alternate names

BARBER-SAY SYNDROME Is also known as bss, hypertrichosis-atrophic skin-ectropion-macrostomia syndrome, hypertrichosis, atrophic skin, ectropion, and macrostomia

Description

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

Most common symptoms of BARBER-SAY SYNDROME

• Intellectual disability
• Global developmental delay
• Hearing impairment
• Growth delay
• Hypertelorism

SOURCES: ORPHANET OMIM MESH

Description

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

Most common symptoms of ABLEPHARON MACROSTOMIA SYNDROME

• Global developmental delay
• Hearing impairment
• Microcephaly
• Growth delay
• Hypertelorism

SOURCES: ORPHANET OMIM MESH

Alternate names

FOCAL FACIAL DERMAL DYSPLASIA TYPE III Is also known as focal facial dermal dysplasia 3, setleis type, setleis syndrome, ffdd type iii, ffdd3, brauer-setleis syndrome

Description

Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD; see this term), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.

Most common symptoms of FOCAL FACIAL DERMAL DYSPLASIA TYPE III

• Global developmental delay
• Generalized hypotonia
• Nystagmus
• Micrognathia
• Strabismus

SOURCES: OMIM ORPHANET

Alternate names

FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 Is also known as focal facial dermal dysplasia, type ii, formerly, bitemporal forceps marks syndrome, facial ectodermal dysplasia, setleis syndrome

Description

The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).FFDD2 (OMIM ) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (OMIM ).

Most common symptoms of FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

• Global developmental delay
• Depressed nasal bridge
• Upslanted palpebral fissure
• Sparse hair
• Scarring

SOURCES: OMIM