Growth delay, and Upslanted palpebral fissure

RETINITIS PIGMENTOSA-JUVENILE CATARACT-SHORT STATURE-INTELLECTUAL DISABILITY SYNDROME Is also known as retinal dystrophy-juvenile cataract-short stature syndrome

• Global developmental delay
• Short stature
• Abnormal facial shape
• Cataract
• Malar flattening

SOURCES: ORPHANET OMIM MENDELIAN

Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.

• Intellectual disability
• Seizures
• Short stature
• Microcephaly
• Growth delay

SOURCES: ORPHANET MENDELIAN

Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

• Intellectual disability
• Generalized hypotonia
• Microcephaly
• Growth delay
• Hypertelorism

SOURCES: ORPHANET OMIM MENDELIAN

• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia
• Hearing impairment

SOURCES: OMIM MENDELIAN

MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

MEDNIK SYNDROME Is also known as intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome|ekv3|erythrokeratodermia variabilis, kamouraska type|erythrokeratodermia variabilis 3

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Hearing impairment
• Growth delay

SOURCES: ORPHANET MESH OMIM MENDELIAN

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Microcephaly

SOURCES: OMIM MENDELIAN

Autosomal dominant primary microcephaly is a rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.

• Intellectual disability
• Global developmental delay
• Short stature
• Microcephaly
• Nystagmus

SOURCES: ORPHANET OMIM MESH MENDELIAN

• Seizures
• Global developmental delay
• Hearing impairment
• Sensorineural hearing impairment
• Cleft palate

SOURCES: OMIM MENDELIAN

Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

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

SOURCES: OMIM MENDELIAN

Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs.

AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS Is also known as autosomal dominant spondylocostal dysplasia

• Microcephaly
• Scoliosis
• Cleft palate
• Wide nasal bridge
• Intrauterine growth retardation

SOURCES: ORPHANET MENDELIAN