Intellectual disability, and Cleft upper lip

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia
• Microcephaly

SOURCES: ORPHANET OMIM MENDELIAN

Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see {119530}).Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); see {119570}.

CLEFT PALATE, ISOLATED; CPI Is also known as cp|cleft palate

• Seizures
• Micrognathia
• Cleft palate
• Cleft lip
• Oral cleft

SOURCES: ORPHANET OMIM MENDELIAN

Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.

• Intellectual disability
• Hearing impairment
• Nystagmus
• Strabismus
• Sensorineural hearing impairment

SOURCES: MESH OMIM ORPHANET MENDELIAN

Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

OROFACIODIGITAL SYNDROME TYPE 5 Is also known as polydactyly postaxial with median cleft of upper lip|oral-facial-digital syndrome type 5|polydactyly, postaxial, with median cleft of upper lip|oral-facial-digital syndrome, type v|thurston syndrome|ofd5|orofaciodigital syndrome, thurston type|ofds v

• Intellectual disability
• Scoliosis
• Hypertelorism
• Cleft palate
• Frontal bossing

SOURCES: ORPHANET MESH OMIM MENDELIAN

X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, SIDERIUS TYPE Is also known as siderius-hamel syndrome|mental retardation, x-linked, syndromic, siderius type

• Intellectual disability
• Scoliosis
• Cleft palate
• Cryptorchidism
• Delayed speech and language development

SOURCES: OMIM ORPHANET MESH MENDELIAN

An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.

• Intellectual disability
• Seizures
• Generalized hypotonia
• Hearing impairment
• Microcephaly

SOURCES: OMIM MENDELIAN

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

SOURCES: MESH OMIM MENDELIAN

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

• Intellectual disability
• Global developmental delay
• Short stature
• Hearing impairment
• Scoliosis

SOURCES: MESH ORPHANET OMIM MENDELIAN

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

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

SOURCES: MESH OMIM MENDELIAN

A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

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

SOURCES: MESH OMIM MENDELIAN