Macrocephaly, and Retrognathia

Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

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

SOURCES: ORPHANET OMIM MENDELIAN

• Short stature
• Hypertelorism
• High palate
• Motor delay
• Macrocephaly

SOURCES: OMIM MENDELIAN

Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• High palate

SOURCES: ORPHANET OMIM MENDELIAN

• Global developmental delay
• Short stature
• Generalized hypotonia
• Cryptorchidism
• Low-set ears

SOURCES: OMIM MENDELIAN

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME Is also known as mental retardation, x-linked, syndromic 28|graham-cox syndrome|mrxs28

• Intellectual disability
• Short stature
• Hearing impairment
• Scoliosis
• Nystagmus

SOURCES: ORPHANET MESH OMIM MENDELIAN

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

• Global developmental delay
• Short stature
• Microcephaly
• Hypertelorism
• Nystagmus

SOURCES: ORPHANET MENDELIAN

Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

• Intellectual disability
• Hypertelorism
• Muscular hypotonia
• Spasticity
• Low-set ears

SOURCES: OMIM ORPHANET MENDELIAN

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

• Seizures
• Global developmental delay
• Generalized hypotonia
• Microcephaly
• Growth delay

SOURCES: MESH ORPHANET OMIM MENDELIAN

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

• Intellectual disability
• Generalized hypotonia
• Cataract
• Low-set ears
• Macrocephaly

SOURCES: OMIM MENDELIAN

Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).

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

SOURCES: OMIM MENDELIAN