Delayed speech and language development, and Ventricular septal defect

Diseases related with Delayed speech and language development and Ventricular septal defect

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Ventricular septal defect that can help you solving undiagnosed cases.


Top matches:

Low match SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHD

SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHD Is also known as ;short stature-developmental delay-congenital heart defect syndrome; tkt deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS ORPHANET MONDO OMIM

More info about SHORT STATURE, DEVELOPMENTAL DELAY, AND CONGENITAL HEART DEFECTS; SDDHD

Low match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Strabismus
  • Motor delay


SOURCES: UMLS ORPHANET OMIM MONDO

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR

Low match MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

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

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Micrognathia


SOURCES: MONDO GARD OMIM UMLS

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

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Other less relevant matches:

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15

Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15 Is also known as ;coxpd15

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS ORPHANET OMIM MONDO

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15

Low match CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MONDO UMLS

More info about CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

Low match RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA

RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia


SOURCES: MONDO MESH OMIM ORPHANET UMLS

More info about RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES; RPSKA

Low match CHROMOSOME 15q14 DELETION SYNDROME

15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism.

CHROMOSOME 15q14 DELETION SYNDROME Is also known as ;del(15)(q14); monosomy 15q14

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS OMIM SCTID MONDO ORPHANET

More info about CHROMOSOME 15q14 DELETION SYNDROME

Low match MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1

This disorder comprises megalencephaly, hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome (MCAP ) (summary by Gripp et al., 2009). Genetic Heterogeneity the Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus SyndromeSee also MPPH2 (OMIM ), caused by mutation in the AKT3 gene (OMIM ) on chromosome 1q43-q44; and MPPH3 (OMIM ), caused by mutation in the CCND2 gene (OMIM ) on chromosome 12p13.

MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1 Is also known as megalencephaly, polymicrogyria, mega corpus callosum syndrome;mpph, meg-pmg-megacc syndrome, megalencephaly, mega corpus callosum, and complete lack of motor development;mpph syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MONDO UMLS MESH

More info about MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1; MPPH1

Low match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Ventricular septal defect

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Ventricular septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Autosomal dominant inheritance Atrial septal defect Motor delay Strabismus Seizures Abnormal cardiac septum morphology Short stature Abnormal facial shape Depressed nasal bridge Muscular hypotonia of the trunk Hypoplasia of the corpus callosum Cryptorchidism Hypertelorism Abnormality of cardiovascular system morphology Feeding difficulties Abnormal heart morphology

Rare Symptoms - Less than 30% cases


Ventriculomegaly Ptosis Sparse hair High forehead Cavum septum pellucidum Prominent nasal bridge Prominent forehead Convex nasal ridge Camptodactyly Nystagmus Scoliosis Polymicrogyria Spasticity Narrow mouth Pointed chin Short philtrum Visual impairment Retrognathia Posteriorly rotated ears Wide nasal bridge Hernia Kyphosis Absent speech Intellectual disability, moderate Oxycephaly Blindness Frontal bossing Macrocephaly Long face Low-set ears Myopathy Pica Micrognathia Dilation of lateral ventricles Inguinal hernia Cleft palate Short metacarpal Facial cleft Acne Tented upper lip vermilion Underdeveloped nasal alae Laryngomalacia Immunodeficiency Small nail Horseshoe kidney Abnormality of the dentition Long philtrum Narrow forehead Congenital blindness Highly arched eyebrow Everted lower lip vermilion Bulbous nose Congenital onset Deeply set eye Cleft lip Metaphyseal chondrodysplasia Smooth philtrum Tics Autism Long palpebral fissure Biparietal narrowing Sepsis Talipes equinovarus Cardiomyopathy Congestive heart failure Pneumonia Micropenis Protruding ear Triangular face Gliosis Focal seizures Cataract Sloping forehead Cutis laxa Narrow palpebral fissure Focal seizures with impairment of consciousness or awareness Disproportionate tall stature Bundle branch block Right bundle branch block Entropion Wide nasal base Flexion contracture Failure to thrive Everted upper lip vermilion Intellectual disability, profound Skeletal muscle atrophy Intellectual disability, severe Hydrocephalus Polydactyly Telecanthus Postaxial polydactyly Postaxial hand polydactyly Pachygyria Mitral regurgitation Vascular ring Knee flexion contracture Cortical dysplasia Renal cyst Megalencephaly Thoracic scoliosis Abnormally large globe Abnormal localization of kidney Abnormal nasal morphology Thick corpus callosum Short distal phalanx of finger Dry skin Retinal degeneration Hypoplastic left atrium Congenital diaphragmatic hernia Short palpebral fissure Tetraparesis Spastic tetraparesis Anophthalmia Bicornuate uterus Ataxia Pulmonary hypoplasia Cognitive impairment Dysarthria Optic atrophy Tremor Obesity Gait ataxia Reduced visual acuity Broad nasal tip Brachycephaly Abnormality of the cerebral white matter Uveitis Patent ductus arteriosus Attention deficit hyperactivity disorder Stereotypy Patent foramen ovale Self-injurious behavior Obsessive-compulsive behavior Proportionate short stature Truncus arteriosus Microphthalmia Neonatal hypotonia Decreased fetal movement Open mouth Respiratory insufficiency due to muscle weakness Severe muscular hypotonia Increased variability in muscle fiber diameter Myopathic facies Abnormal pyramidal sign Unsteady gait Nyctalopia Premature loss of primary teeth Ectodermal dysplasia Broad thumb Sparse scalp hair Thin skin Widely spaced teeth Atrioventricular canal defect Fragile nails Short digit Syndactyly Brachydactyly Downslanted palpebral fissures Short neck Malar flattening Rod-cone dystrophy Macrotia Craniosynostosis Microdontia Aplasia of the inferior half of the cerebellar vermis Poor speech Wolff-Parkinson-White syndrome Tetraplegia Increased serum lactate Spastic tetraplegia Intention tremor Incoordination Pituitary adenoma Increased CSF lactate Epicanthus Small cerebral cortex Agenesis of corpus callosum Upslanted palpebral fissure Clinodactyly Thin upper lip vermilion Joint hypermobility Mild microcephaly Periventricular leukomalacia Narrow naris



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