Global developmental delay, and Congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.

CONGENITAL DIAPHRAGMATIC HERNIA Is also known as hemidiaphragm, agenesis of|dih|diaphragm, unilateral agenesis of|hernia, congenital diaphragmatic|hcd|cdh|diaphragmatic defect, congenital

• Global developmental delay
• Hearing impairment
• Growth delay
• Hypertension
• Respiratory distress

SOURCES: ORPHANET OMIM MENDELIAN

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

SOURCES: OMIM MENDELIAN

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Micrognathia
• Abnormal facial shape

SOURCES: OMIM MENDELIAN

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

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

SOURCES: ORPHANET OMIM MENDELIAN

• Global developmental delay
• Short stature
• Microcephaly
• Growth delay
• Failure to thrive

SOURCES: OMIM MENDELIAN

• Intellectual disability
• Global developmental delay
• Microcephaly
• Nystagmus
• Strabismus

SOURCES: OMIM ORPHANET MENDELIAN

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 Is also known as aplcc|aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies

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

SOURCES: OMIM MENDELIAN

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome is characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).

PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME Is also known as pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease|pancreatic agenesis and congenital heart defects|pachd|yorifuji-okuno syndrome

• Intellectual disability
• Seizures
• Global developmental delay
• Microcephaly
• Failure to thrive

SOURCES: MESH ORPHANET OMIM MENDELIAN

Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

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

SOURCES: OMIM MENDELIAN

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

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

SOURCES: OMIM ORPHANET MENDELIAN