Abnormal facial shape, and Downslanted palpebral fissures

Medium match ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS; ECTD14

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Ectodermal dysplasia-14 of the hair/tooth type is primarily characterized by scalp hypotrichosis and hypodontia. Some patients have decreased sweating, and some show subtle facial dysmorphism (Peled et al., 2016).

• Abnormal facial shape
• Downslanted palpebral fissures
• Hyperhidrosis
• Hypotrichosis
• Thick vermilion border

SOURCES: OMIM MENDELIAN

Medium match ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-13 of the hair/tooth type is characterized by severe oligodontia accompanied by anomalies of hair and skin (Issa et al., 2016).

• Hypertelorism
• Abnormal facial shape
• Depressed nasal bridge
• Wide nasal bridge
• Downslanted palpebral fissures

SOURCES: OMIM MENDELIAN

Medium match TREACHER COLLINS SYNDROME 2; TCS2

Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011).For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (OMIM ).

• Hearing impairment
• Micrognathia
• Cleft palate
• Downslanted palpebral fissures
• Malar flattening

SOURCES: OMIM MENDELIAN

Medium match FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs.

FACIAL DYSMORPHISM-LENS DISLOCATION-ANTERIOR SEGMENT ABNORMALITIES-SPONTANEOUS FILTERING BLEBS SYNDROME Is also known as fdlab syndrome|ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism|traboulsi syndrome|facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

• Abnormal facial shape
• Downslanted palpebral fissures
• Microphthalmia
• Visual loss
• Retrognathia

SOURCES: ORPHANET MESH OMIM MENDELIAN

Medium match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23|spinocerebellar ataxia autosomal recessive type 23

• Intellectual disability
• Seizures
• Generalized hypotonia
• Ataxia
• Abnormal facial shape

SOURCES: ORPHANET OMIM MENDELIAN

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 53; MRD53

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly

SOURCES: OMIM MENDELIAN

Medium match MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3; MCCRP3

• Global developmental delay
• Microcephaly
• Nystagmus
• Abnormal facial shape
• Visual impairment

SOURCES: OMIM MENDELIAN

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Hypertelorism

SOURCES: OMIM MENDELIAN

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

• Intellectual disability
• Seizures
• Global developmental delay
• Microcephaly
• Hypertelorism

SOURCES: OMIM MENDELIAN

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38

MENTAL RETARDATION, AUTOSOMAL DOMINANT 38; MRD38 Is also known as psychomotor retardation, epilepsy, and language disability syndrome|prelds

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly

SOURCES: OMIM MENDELIAN