Global developmental delay, and Situs inversus totalis

Diseases related with Global developmental delay and Situs inversus totalis

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

Top matches:

BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay (Ansley et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Cognitive impairment
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 8; BBS8

NEPHRONOPHTHISIS 2; NPHP2 Is also known as nph2

Related symptoms:

  • Global developmental delay
  • Anemia
  • Hypertension
  • Hepatomegaly
  • Respiratory insufficiency


SOURCES: OMIM MESH MENDELIAN

More info about NEPHRONOPHTHISIS 2; NPHP2

Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 (OMIM ). CFEOM2 (OMIM ) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by Yamada et al., 2004 and Heidary et al., 2008).Yamada et al. (2003) concluded that CFEOM3 is a relatively rare form of CFEOM. Genetic Heterogeneity of CFEOM3The CFEOM3 phenotype is genetically heterogeneous; see also CFEOM3B (OMIM ), caused by mutation in the KIF21A gene on chromosome 12q12, and CFEOM3C (OMIM ), which maps to chromosome 13q.

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A Is also known as feom3 locus

Related symptoms:

  • Global developmental delay
  • Strabismus
  • Ptosis
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: OMIM MESH MENDELIAN

More info about FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT; CFEOM3A

Other less relevant matches:

Autosomal visceral heterotaxy-7 is an autosomal recessive developmental disorder characterized by complex congenital heart malformations and/or situs inversus and caused by defects in the normal left-right asymmetric positioning of internal organs. The phenotype is variable (summary by Guimier et al., 2015).For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Ventricular septal defect
  • Atrial septal defect
  • Abnormal heart morphology
  • Abnormal cardiac septum morphology


SOURCES: OMIM MENDELIAN

More info about HETEROTAXY, VISCERAL, 7, AUTOSOMAL; HTX7

BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Brachydactyly
  • Renal insufficiency
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 17; BBS17

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

High match JOUBERT SYNDROME

Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

JOUBERT SYNDROME Is also known as cerebelloparenchymal disorder iv|joubert syndrome type a|classic joubert syndrome|pure joubert syndrome|cpd iv|joubert-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME

Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.

CARPENTER SYNDROME Is also known as acrocephalopolysyndactyly type 2|acps2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARPENTER SYNDROME

The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS; see this term), establishing a complementary duplication syndrome.

22Q11.2 MICRODUPLICATION SYNDROME Is also known as duplication 22q11.2|chromosome 22q11.2 microduplication syndrome|trisomy 22q11.2|dup(22)(q11)

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 22Q11.2 MICRODUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Situs inversus totalis

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Situs inversus totalis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Dextrocardia Abnormal facial shape Brachydactyly Abnormal cardiac septum morphology Seizures Anemia Transposition of the great arteries Obesity Micropenis Postaxial polydactyly Abnormality of cardiovascular system morphology Ptosis Polydactyly Hearing impairment

Rare Symptoms - Less than 30% cases

Abnormal heart morphology External genital hypoplasia Cone/cone-rod dystrophy Retinal degeneration Common atrium Interrupted aortic arch Total anomalous pulmonary venous return Heterotaxy Anomalous pulmonary venous return Short stature Polysplenia Midface retrusion Double outlet right ventricle Foot polydactyly Highly arched eyebrow Growth delay Abdominal situs inversus Anteverted nares Muscular hypotonia Nystagmus Cryptorchidism Ataxia Scoliosis Cutis laxa Pancytopenia Failure to thrive Hypertelorism High palate Epicanthus Specific learning disability Patent ductus arteriosus Thrombocytopenia Apnea Sensorineural hearing impairment Hydronephrosis Microcephaly Brachycephaly Polyuria Neurological speech impairment Asthma Hypogonadism Abnormality of the kidney Hepatomegaly Stage 5 chronic kidney disease Strabismus Rod-cone dystrophy Oligohydramnios Renal insufficiency Polydipsia Cognitive impairment Macrocytic anemia Secondary amenorrhea Hyperglycemia Megaloblastic anemia Velopharyngeal insufficiency Urethral stenosis Myelodysplasia Abnormality of the basal ganglia Sideroblastic anemia Prominent forehead Progressive peripheral neuropathy Paroxysmal atrial tachycardia Aminoaciduria Thiamine-responsive megaloblastic anemia Abnormality of the pharynx Dyslexia Wide nasal bridge Frontal bossing Abnormality of immune system physiology Hypoplastic left heart Abnormality of the skeletal system Talipes equinovarus Short neck Polycystic ovaries Amenorrhea Hoarse voice Stroke Subependymal cysts Optic atrophy Cardiomyopathy Diarrhea Congestive heart failure Headache Visual loss Arrhythmia Diabetes mellitus Gastroesophageal reflux Hypoglycemia Pallor Lethargy Cardiac arrest Paresthesia Retinal dystrophy Polyneuropathy Aplasia/Hypoplasia of the thymus Displacement of the external urethral meatus Persistent left superior vena cava Neutropenia Anterior creases of earlobe Aciduria Abnormality of the skin Bilateral sensorineural hearing impairment Anorexia Obsessive-compulsive behavior Nasal speech Stridor Abnormality of the skull Narrow palate Anxiety Coxa vara Preaxial polydactyly Trigonocephaly Bilateral cryptorchidism Supernumerary nipple High forehead Mandibular prognathia Cutaneous finger syndactyly Hypoplastic nipples Shawl scrotum Turricephaly Preaxial foot polydactyly Abnormality of the pinna Cloverleaf skull Oxycephaly Abnormal cornea morphology Diaphragmatic eventration Narrow naris Aplasia of the middle phalanx of the hand Abnormal reproductive system morphology Autism Generalized hypotonia Micrognathia Cleft palate Delayed speech and language development Downslanted palpebral fissures Intellectual disability, severe Sparse and thin eyebrow Attention deficit hyperactivity disorder Behavioral abnormality Camptodactyly Syndactyly Laryngomalacia Hernia Pectus excavatum Clinodactyly Upslanted palpebral fissure Abnormality of the genitourinary system Kyphoscoliosis Sleep apnea Retrognathia Narrow face Stereotypy Umbilical hernia Protruding ear Broad thumb Craniosynostosis Pectus carinatum Depressed nasal ridge Finger syndactyly Toe syndactyly Tetralogy of Fallot Genu valgum Gastrointestinal hemorrhage Thick vermilion border Wide nose Webbed neck Smooth philtrum Postaxial hand polydactyly Poor speech Wide intermamillary distance Increased serum bile acid concentration Episodic tachypnea Congenital fibrosis of extraocular muscles Facial palsy Scarring Camptodactyly of finger Ophthalmoplegia Abnormality of movement Peripheral axonal neuropathy Esotropia Amblyopia Exotropia Joint contracture of the hand External ophthalmoplegia Wrist flexion contracture Corneal scarring Restrictive external ophthalmoplegia Peripheral neuropathy Compensatory chin elevation Superior rectus atrophy Levator palpebrae superioris atrophy Nonprogressive restrictive external ophthalmoplegia Sensory exotropia Dyskinesia Intestinal malrotation Otitis media Cyanosis Sinusitis Ciliary dyskinesia Atrioventricular canal defect Chronic sinusitis Pulmonary artery atresia Agenesis of corpus callosum Flexion contracture Complete atrioventricular canal defect Polycystic kidney dysplasia Hypospadias Renal dysplasia Hydrometrocolpos Hypertension Respiratory insufficiency Dilatation Respiratory failure Acidosis Abnormality of the liver Pulmonary hypoplasia Nephropathy Metabolic acidosis Cholestasis Nephritis Hyperkalemic metabolic acidosis Hyperkalemia Nephronophthisis Enlarged kidney Elevated serum creatinine Tubulointerstitial nephritis Cholestatic liver disease Portal fibrosis Pulmonary insufficiency Hyperechogenic kidneys Oliguria Tubulointerstitial abnormality Renal cortical microcysts Absence of renal corticomedullary differentiation Chronic tubulointerstitial nephritis Abnormal aortic valve morphology Nasal polyposis Abnormal pattern of respiration Feeding difficulties in infancy Poor suck Patent foramen ovale Clitoral hypertrophy Premature skin wrinkling Biventricular hypertrophy Micronodular cirrhosis Functional respiratory abnormality Infra-orbital crease Abnormality of the clitoris Abnormality of glutamine metabolism Tremor Gait disturbance Hydrocephalus Prominent nasal bridge Hydrops fetalis Oral cleft Long face Polymicrogyria Iris coloboma Cerebellar vermis hypoplasia Abnormal form of the vertebral bodies Encephalocele Aganglionic megacolon Oculomotor apraxia Aplasia/Hypoplasia of the corpus callosum Hand polydactyly Abnormality of neuronal migration Biparietal narrowing Abnormality of the hypothalamus-pituitary axis Deep philtrum Decreased liver function Right aortic arch Y-shaped metacarpals Abnormal tricuspid valve morphology Pulmonary artery hypoplasia Mitral atresia Hypoplasia of right ventricle Interrupted inferior vena cava with azygous continuation Atrial situs inversus Renal cyst Anosmia Postaxial foot polydactyly Undetectable electroretinogram Hyposmia Bilateral postaxial polydactyly Mesoaxial polydactyly Intrauterine growth retardation Wide anterior fontanel Edema Splenomegaly Hepatosplenomegaly Wide mouth Short philtrum Small for gestational age Synophrys Cirrhosis Thin vermilion border Triangular face Abnormal bleeding Coarctation of aorta Telangiectasia Hepatic fibrosis Bilateral trilobed lungs


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