Global developmental delay, and Congenital diaphragmatic hernia

Diseases related with Global developmental delay and Congenital diaphragmatic hernia

In the following list you will find some of the most common rare diseases related to Global developmental delay and Congenital diaphragmatic hernia that can help you solving undiagnosed cases.

Top matches:

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DIAPHRAGMATIC HERNIA

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Other less relevant matches:

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2

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

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PANCREATIC HYPOPLASIA-DIABETES-CONGENITAL HEART DISEASE SYNDROME

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Congenital diaphragmatic hernia

Symptoms // Phenotype % cases
Hernia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Congenital diaphragmatic hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Respiratory distress Hearing impairment Short stature Generalized hypotonia Posteriorly rotated ears Sensorineural hearing impairment Hypertelorism Strabismus Myopia Depressed nasal bridge Seizures Ventricular septal defect Microphthalmia Micrognathia Pulmonary hypoplasia Growth delay Hypertension Hypoplasia of the corpus callosum Abnormal cardiac septum morphology

Rare Symptoms - Less than 30% cases

Epicanthus Dandy-Walker malformation Broad nasal tip Hypermetropia Short chin Downslanted palpebral fissures Polydactyly High palate Tetralogy of Fallot Macrocephaly Cleft palate Inguinal hernia Iris coloboma Delayed myelination Retrognathia Ambiguous genitalia Coloboma Cortical gyral simplification Wide anterior fontanel Optic atrophy Failure to thrive Low-set ears Intrauterine growth retardation Talipes equinovarus Ventriculomegaly Polyhydramnios Gastroesophageal reflux Telecanthus Brachycephaly Wide nasal bridge Cryptorchidism Intestinal malrotation Ureteral duplication Spontaneous abortion Midface retrusion Cerebral atrophy Hydrocephalus Small for gestational age Hyperactivity Cervical ribs Sandal gap Pancreatic hypoplasia Biliary atresia Perimembranous ventricular septal defect Intermittent diarrhea Interrupted aortic arch Optic disc pallor Abnormality of the skeletal system Patent ductus arteriosus Ventricular hypertrophy Microcolon Neonatal insulin-dependent diabetes mellitus Left-to-right shunt Aplasia cutis congenita Aplasia/Hypoplasia of the gallbladder Prolonged partial thromboplastin time Mild microcephaly Abnormal heart morphology Congenital hypothyroidism Hyperbilirubinemia Patent foramen ovale Oligohydramnios Hyperglycemia Erythroderma Pulmonary arterial hypertension Transposition of the great arteries Hepatitis Exocrine pancreatic insufficiency Diabetes mellitus Gliosis Pulmonary artery stenosis Pulmonic stenosis Truncus arteriosus Single umbilical artery Elevated hepatic transaminase Cardiac arrest Neonatal hypotonia Umbilical hernia Glycosuria Facial asymmetry Anterior pituitary agenesis Downturned corners of mouth Behavioral abnormality Abnormality of cardiovascular system morphology Constipation Rod-cone dystrophy Narrow mouth Autism Mandibular prognathia Thin upper lip vermilion Joint laxity Short philtrum Astigmatism Focal-onset seizure Short neck Bilateral sensorineural hearing impairment Open mouth Cerebral visual impairment Pointed chin Abnormality of the outer ear Cone/cone-rod dystrophy Abnormal electroretinogram Focal impaired awareness seizure Self-injurious behavior Abnormality of visual evoked potentials Facial hypotonia Blindness Brachydactyly Hypoplasia of right ventricle Hepatic failure Pancreatic aplasia Double outlet left ventricle Hypoplastic tricuspid valve Congenital defect of the pericardium Colon perforation Total absence of the pericardium Motor delay Frontal bossing Cerebellar hypoplasia Cleft lip Joint hypermobility Bulbous nose Periventricular gray matter heterotopia Microdontia Cholestasis Heterotopia Microretrognathia Lissencephaly Relative macrocephaly Communicating hydrocephalus Abnormal cortical gyration Colpocephaly Macular hypoplasia Severe hydrocephalus Renal agenesis Microcornea Wide intermamillary distance Hypospadias Wide nose Chorea Tetraparesis Short palpebral fissure Spastic tetraparesis Anophthalmia Bicornuate uterus Hypoplastic left atrium Ataxia Intellectual disability, severe Micropenis Sparse hair Retinopathy Postaxial polydactyly Retinal dystrophy Postaxial hand polydactyly Sloping forehead Apraxia Tall stature Oculomotor apraxia Aplasia/Hypoplasia of the corpus callosum Triphalangeal thumb Severe global developmental delay Muscular hypotonia of the trunk Prominent occiput Bifid uvula Syndactyly Pterygium Abnormality of digit Developmental stagnation Abnormality of the diaphragm Agenesis of the diaphragm Posterolateral diaphragmatic hernia Anemia Malar flattening Microtia Webbed neck Dystonia Sparse and thin eyebrow Sparse eyebrow Mixed hearing impairment Macrocytic anemia Submucous cleft hard palate Severe sensorineural hearing impairment Broad neck Granulocytopenia Mandibulofacial dysostosis Spasticity Delayed speech and language development Aplasia/Hypoplasia of the cerebellum Molar tooth sign on MRI Highly arched eyebrow Congenital ptosis Narrow forehead Primary amenorrhea Abnormality of the hair Narrow palpebral fissure Holoprosencephaly Premature ovarian insufficiency Cupped ear Hypoplasia of the uterus Short finger Increased circulating gonadotropin level Epicanthus inversus Infertility Unilateral ptosis Female infertility Premature atrial contractions Abnormality of the breast Abnormal lacrimal duct morphology Visual impairment Short nose Long philtrum Clinodactyly Upslanted palpebral fissure High forehead Amenorrhea Synophrys Nephronophthisis Abnormal lung morphology Abnormality of the clavicle Immunodeficiency Recurrent respiratory infections Respiratory failure Protruding ear Long face Asthma Convex nasal ridge Decreased fetal movement Hypertrichosis Pachygyria Blepharophimosis Recurrent urinary tract infections Narrow face Multicystic kidney dysplasia Clitoral hypertrophy Scaphocephaly Recurrent lower respiratory tract infections Chronic lung disease Pulmonary artery hypoplasia Nystagmus Ptosis Camptodactyly Hypoglycemic seizures


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