Global developmental delay, and Aortic valve stenosis

Diseases related with Global developmental delay and Aortic valve stenosis

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


Top matches:

High match X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME


X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME

High match VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1


VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017). Genetic Heterogeneity of vertebral, cardiac, renal, and limb defects syndromeSee also VCRL2 (OMIM ), caused by mutation in the KYNU gene (OMIM ) on chromosome 2q22.

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1 Is also known as 3-hydroxyanthranilic acidemia|congenital nad deficiency disorder 1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1

High match MUCOLIPIDOSIS TYPE III GAMMA


Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.

MUCOLIPIDOSIS TYPE III GAMMA Is also known as ml iii gamma|mucolipidosis type 3 gamma|mucolipidosis iii, iranian variant form|ml 3 gamma|mucolipidosis iiic|ml iiic|mucolipidosis iii, complementation group c|mucolipidosis iii, variant form

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain
  • Flexion contracture


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III GAMMA

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Other less relevant matches:

High match PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM; PMRED


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM; PMRED

High match ANAUXETIC DYSPLASIA 1; ANXD1


Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by Thiel et al., 2005).Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH ) and metaphyseal dysplasia without hypotrichosis (OMIM ). Genetic Heterogeneity of Anauxetic DysplasiaAnauxetic dysplasia-2 (ANXD2 ) is caused by mutation in the POP1 gene on chromosome 8q22.

ANAUXETIC DYSPLASIA 1; ANXD1 Is also known as spondyloepimetaphyseal dysplasia, anauxetic type|anxd|spondylometaepiphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, menger type|anauxetic dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about ANAUXETIC DYSPLASIA 1; ANXD1

High match KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION


KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION Is also known as kleefstra syndrome due to del(9)(q34)|9q subtelomeric deletion syndrome|kleefstra syndrome due to 9q subtelomeric deletion|kleefstra syndrome due to monosomy 9q34|9qstds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION

High match GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME


Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease|gaucher-like disease|gaucher disease type 3c

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

Medium match MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1


A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

Medium match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Medium match GELEOPHYSIC DYSPLASIA


Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').

GELEOPHYSIC DYSPLASIA Is also known as geleophysic dwarfism

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA

Top 5 symptoms//phenotypes associated to Global developmental delay and Aortic valve stenosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cardiomegaly Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Global developmental delay and Aortic valve stenosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Congestive heart failure Microcephaly Aortic regurgitation Hearing impairment Feeding difficulties Wide mouth Mitral stenosis Cryptorchidism Hepatomegaly Respiratory insufficiency Hypertelorism

Rare Symptoms - Less than 30% cases


Ovoid vertebral bodies Hernia Macroglossia Short palm Kyphoscoliosis Umbilical hernia Hyporeflexia Hypospadias Ventriculomegaly Bicuspid aortic valve Tetraplegia Abnormal facial shape Dilatation Vesicoureteral reflux Generalized hypotonia Hypertension Dysostosis multiplex Horizontal nystagmus Mutism Opacification of the corneal stroma Failure to thrive Pectus excavatum Hypoplasia of the capital femoral epiphysis J-shaped sella turcica Rocker bottom foot Growth delay Full cheeks Muscular hypotonia Pulmonic stenosis Anteverted nares Midface retrusion Oligohydramnios Short nose Anemia Inguinal hernia Brachycephaly Hydrocephalus Strabismus Respiratory distress Sensorineural hearing impairment Ventricular hypertrophy Hepatosplenomegaly Talipes Short neck Intellectual disability, mild Kyphosis Arthralgia Renal hypoplasia Spasticity Hyperlordosis Joint stiffness Abnormal saccadic eye movements Aortic valve calcification Aciduria Increased serum lactate Metabolic acidosis Corneal crystals Reticular hyperpigmentation Irregular capital femoral epiphysis Spontaneous abortion Abnormal aortic morphology Abnormality of the pulmonary artery Cardiac arrest Severe muscular hypotonia Hyperammonemia Severe failure to thrive Abnormal aortic valve morphology Abnormal mitral valve morphology Severe lactic acidosis Foam cells 3-Methylglutaconic aciduria Supranuclear gaze palsy Lactic acidosis Aortic arch calcification Mitral valve calcification Decreased beta-glucocerebrosidase protein and activity Cardiovascular calcification Ataxia Micrognathia Low-set ears Hypometric horizontal saccades Frontal bossing Cardiomyopathy Slowed horizontal saccades Cardiac valve calcification Abnormality of cardiovascular system morphology Abnormality of toe Bacterial endocarditis Supranuclear ophthalmoplegia Abnormal heart morphology Calcification of the aorta Acidosis Elevated serum acid phosphatase Retrognathia Hypertrophic cardiomyopathy Camptodactyly Abnormal aortic arch morphology Short philtrum Prominent nasal bridge Abnormal common carotid artery morphology Spontaneous, recurrent epistaxis Right ventricular hypertrophy Overgrowth Ptosis Talipes equinovarus Thin upper lip vermilion Osteopenia Upslanted palpebral fissure Severe short stature Delayed skeletal maturation Long philtrum Renal diverticulum Smooth philtrum Bowel diverticulosis Arterial fibromuscular dysplasia Tip-toe gait Supravalvular aortic stenosis Congenital hemolytic anemia Vascular tortuosity Camptodactyly of finger Small hand Ascending tubular aorta aneurysm Short long bone Bilateral talipes equinovarus Toe walking Cone-shaped epiphysis Tracheal stenosis Lack of skin elasticity Thickened helices Coxa valga Short foot Joint contracture of the hand Thickened skin Small nail Limb undergrowth Wrist flexion contracture Round face Dermal translucency Arterial stenosis Arrhythmia Hemolytic anemia Tricuspid stenosis Recurrent urinary tract infections Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia High pitched voice Recurrent fractures Arachnodactyly Wormian bones Joint hyperflexibility Hip dislocation Joint laxity Hypothyroidism Osteoporosis Recurrent respiratory infections Abnormality of the face Abnormal EKG Ileus Prematurely aged appearance Bladder diverticulum Cor pulmonale Atelectasis Premature skin wrinkling Pulmonary artery stenosis Shawl scrotum Progressive sensorineural hearing impairment Cutis laxa Delayed cranial suture closure Emphysema Epiphyseal dysplasia Aortic aneurysm Redundant skin Shock Communicating hydrocephalus Flat occiput Abnormal heart valve morphology Abnormality of the cerebral white matter Abnormality of the hand Spondyloepiphyseal dysplasia Flared iliac wings Abnormality of the rib cage Flat capital femoral epiphysis Increased serum iduronate sulfatase activity Increased serum beta-hexosaminidase Nystagmus Hypoplasia of the corpus callosum Areflexia Myoclonus EEG abnormality Severe global developmental delay Bulbous nose Pectus carinatum Tapered finger Broad thumb CNS hypomyelination Atonic seizures Hydrocele testis Subglottic stenosis Broad jaw Neoplasm Brachydactyly Mandibular prognathia Platyspondyly Hypotrichosis Hypodontia Hypotelorism Genu valgum Pes planus Rhizomelia Atrial septal defect Absent speech Macrotia Spastic tetraplegia Intellectual disability, profound Atrial fibrillation Multiple joint contractures Macroorchidism Abnormality of the thumb Atrial flutter Venous insufficiency Contractures of the large joints Sclerotic vertebral endplates Cleft palate Bifid uvula Coarse facial features Hypoplastic left heart Tracheomalacia Lipoma Tethered cord Butterfly vertebrae Spinal dysraphism Absence of the sacrum Laryngotracheomalacia Hypoplastic sacrum Laryngeal web Scoliosis Pain Myopia Abnormality of the skeletal system Lumbar hyperlordosis Short toe Exertional dyspnea Conotruncal defect Coarctation of aorta Status epilepticus Absence seizures Apathy Aphasia Dysphasia Absent septum pellucidum Protruding tongue Epileptic spasms Echolalia Abnormality of the testis Femoral hernia Subcortical cerebral atrophy Cerebral cortical hemiatrophy Tetralogy of Fallot Hypertonia Splenomegaly Pes cavus Pallor Corneal opacity Generalized tonic-clonic seizures Ophthalmoplegia Dry skin Pancytopenia Mitral regurgitation Decreased body weight Oculomotor apraxia Cachexia Heart murmur Hypoplasia of penis Specific learning disability Elbow flexion contracture Cervical subluxation Metaphyseal widening Metaphyseal irregularity Flared metaphysis Short finger Disproportionate short stature Metaphyseal dysplasia Thoracic kyphosis Hypoplastic ilia Small epiphyses Delayed ossification of carpal bones Shallow acetabular fossae Atlantoaxial dislocation Broad phalanx Cervical cord compression Hypoplastic iliac body Sleep disturbance Behavioral abnormality Renal insufficiency Obesity Depressivity Agenesis of corpus callosum Cerebral cortical atrophy Autism Anxiety Irritability Abnormal cardiac septum morphology Synophrys Downturned corners of mouth Everted lower lip vermilion Highly arched eyebrow Short metacarpals with rounded proximal ends



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Hyperglycemia, related diseases and genetic alterations Epicanthus and Triangular face, related diseases and genetic alterations Flexion contracture and Dysarthria, related diseases and genetic alterations Cleft palate and Hypodontia, related diseases and genetic alterations Cataract and Tetralogy of Fallot, related diseases and genetic alterations Muscular hypotonia and Blepharophimosis, related diseases and genetic alterations

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