Delayed speech and language development, and Coarctation of aorta

Diseases related with Delayed speech and language development and Coarctation of aorta

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21

MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21 Is also known as ;

Related symptoms:

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


SOURCES: UMLS MONDO OMIM ORPHANET DOID

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 21; MRD21

Low match HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY

Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.

HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY Is also known as mental retardation, autosomal recessive 8, formerly;mrt8, formerly;adk hypermethioninemia; hypermethioninemia encephalopathy due to adk deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET DOID UMLS OMIM MESH MONDO

More info about HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY

Low match GALLOWAY-MOWAT SYNDROME 3; GAMOS3

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: UMLS OMIM MONDO DOID

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

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Other less relevant matches:

Low match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2; NSLH2

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2; NSLH2 Is also known as ;ns/lah; tosti syndrome

Related symptoms:

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


SOURCES: OMIMPS ORPHANET UMLS OMIM

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2; NSLH2

Low match ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL Is also known as ;haberland syndrome

Related symptoms:

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


SOURCES: ORPHANET SCTID MESH GARD OMIM UMLS MONDO NCIT

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL

Low match KLEEFSTRA SYNDROME 1; KLEFS1

Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects. Genetic Heterogeneity of Kleefstra SyndromeKLEFS2 (OMIM ) is caused by mutation in the KMT2C gene (OMIM ) on chromosome 7q36.

KLEEFSTRA SYNDROME 1; KLEFS1 Is also known as chromosome 9q34.3 deletion syndrome, 9q- syndrome, 9q subtelomeric deletion syndrome

Related symptoms:

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


SOURCES: DOID MONDO ORPHANET OMIM

More info about KLEEFSTRA SYNDROME 1; KLEFS1

Low match CHROMOSOME 15q26-qter DELETION SYNDROME

Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.

CHROMOSOME 15q26-qter DELETION SYNDROME Is also known as drayer syndrome;15q26 deletion syndrome; distal 15q deletion syndrome; monosomy 15q26; telomeric 15q deletion syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: MONDO ORPHANET OMIM DOID MESH UMLS

More info about CHROMOSOME 15q26-qter DELETION SYNDROME

Low match MOWAT-WILSON SYNDROME; MOWS

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease, hirschsprung disease-mental retardation syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia


SOURCES: SCTID ORPHANET OMIM UMLS

More info about MOWAT-WILSON SYNDROME; MOWS

Low match FLOATING-HARBOR SYNDROME; FLHS

Floating-Harbor syndrome is a rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features. The face is triangular with deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips (Lacombe et al., 1995).Rubinstein-Taybi syndrome (see {180849}), which shows phenotypic overlap with Floating-Harbor syndrome, is caused by mutation in the CREBBP gene (OMIM ), for which SRCAP is a coactivator.

FLOATING-HARBOR SYNDROME; FLHS Is also known as ;

Related symptoms:

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


SOURCES: MONDO SCTID MESH ORPHANET GARD UMLS OMIM

More info about FLOATING-HARBOR SYNDROME; FLHS

Low match DIGEORGE SYNDROME; DGS

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as chromosome 22q11.2 deletion syndrome, hypoplasia of thymus and parathyroids, third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM

More info about DIGEORGE SYNDROME; DGS

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Coarctation of aorta

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Coarctation of aorta. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases


Pica

Common Symptoms - More than 50% cases


Autosomal dominant inheritance

Uncommon Symptoms - Between 30% and 50% cases


Strabismus

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Hydronephrosis Patent ductus arteriosus Ventriculomegaly Failure to thrive Abnormal facial shape Cleft palate Growth delay Microphthalmia Brachydactyly Behavioral abnormality Micrognathia Short philtrum Pulmonic stenosis Epicanthus Posteriorly rotated ears Abnormality of cardiovascular system morphology Hypospadias Ptosis Short neck Low-set ears High palate Postnatal growth retardation Hydrocephalus Neoplasm Wide nasal bridge Mandibular prognathia Abnormal cardiac septum morphology Abnormal heart morphology Iris coloboma Neurological speech impairment Sporadic Abnormality of the genital system Cerebral cortical atrophy Intellectual disability, severe Agenesis of corpus callosum Hypoplasia of the corpus callosum Tetralogy of Fallot Bicuspid aortic valve Constipation Upslanted palpebral fissure Low posterior hairline Coloboma Abnormality of the pinna Pectus excavatum Thin vermilion border Telecanthus Intrauterine growth retardation Downslanted palpebral fissures Oxycephaly Anteverted nares Macrocephaly Cerebral atrophy Autistic behavior

Rare Symptoms - Less than 30% cases


Delayed eruption of teeth Poor speech Inguinal hernia Natal tooth Supernumerary nipple Obesity Feeding difficulties Glioma Everted lower lip vermilion Dilatation Nasal speech Pulmonary artery stenosis Talipes equinovarus Abnormality of the fingernails Dandy-Walker malformation Midface retrusion Abnormality of the dentition Downturned corners of mouth Vomiting Hypertonia Lipoma Hypermetropia Vesicoureteral reflux Umbilical hernia Motor delay Single transverse palmar crease Frontal bossing Coarse facial features Micropenis Interrupted aortic arch Hypoplasia of penis Conotruncal defect Fever Thickened helices Peripheral pulmonary artery stenosis Sparse scalp hair Sclerocornea Joint hypermobility Sloping forehead Esotropia Hypoplastic left heart Scoliosis Blepharophimosis Hypocalcemia Attention deficit hyperactivity disorder Postnatal microcephaly Cognitive impairment Abnormality of the kidney Muscular hypotonia Smooth philtrum Deeply set eye Hip dislocation Bulbous nose Nephrotic syndrome Broad nasal tip Triangular face Small hand Cerebellar hypoplasia Clinodactyly Broad columella Short palpebral fissure Delayed skeletal maturation Arthritis Pectus carinatum Recurrent otitis media Craniosynostosis Broad thumb Otitis media Macrotia Finger clinodactyly Spasticity Tics Thin upper lip vermilion Short nose Nystagmus Short thumb Camptodactyly of finger Headache Atypical absence seizures Prominent nasal tip Esodeviation Deep plantar creases Broad eyebrow Subglottic stenosis Intellectual disability, mild Babinski sign Uplifted earlobe Happy demeanor Gait disturbance Typical absence seizures Generalized muscle hypertrophy Hyperreflexia Pulmonary artery sling Hypertension Clinodactyly of the 5th finger Fine hair Bruxism Finger syndactyly Aganglionic megacolon Open mouth Abdominal distention Febrile seizures Brain atrophy Focal seizures Tapered finger Cleft upper lip Anxiety Pointed chin High forehead Absent speech Depressivity Syndactyly Pain Low 1-minute APGAR score Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis 2-3 toe cutaneous syndactyly Aplasia cutis congenita over the scalp vertex Absence seizures Aplasia/Hypoplasia of the corpus callosum Low hanging columella Submucous cleft hard palate Tracheal stenosis Broad hallux phalanx Chronic constipation Large earlobe Drowsiness Misalignment of teeth Abnormal eyebrow morphology External ear malformation Hallux valgus Abnormality of the genitourinary system Sparse eyebrow Cupped ear Ectopic kidney Bifid scrotum Cutaneous syndactyly Aplasia/Hypoplasia of the cerebellum Poor suck Widely spaced teeth Drooling Hyperactivity Short upper lip Conductive hearing impairment Purpura Autoimmune thrombocytopenia Meningocele Autoimmune hemolytic anemia Inflammation of the large intestine Hypoparathyroidism Unilateral renal agenesis Rheumatoid arthritis Psoriasiform dermatitis Acne Cholelithiasis Arnold-Chiari malformation Schizophrenia Spina bifida Vitiligo Amblyopia Exotropia Renal dysplasia Primary amenorrhea Amenorrhea Specific learning disability Renal agenesis Chorea Bifid uvula Astigmatism High, narrow palate Hemolytic anemia Bipolar affective disorder Myelomeningocele Cleft lip Abnormality of the middle ear Type I truncus arteriosus Parathyroid hypoplasia Esophoria Right aortic arch with mirror image branching Sacral meningocele Arteria lusoria Vascular tortuosity Aplasia of the thymus Abnormality of the thymus Impaired T cell function Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Truncus arteriosus Right aortic arch Perimembranous ventricular septal defect Alcoholism Graves disease Anterior segment developmental abnormality Femoral hernia Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Tetany Hypoplasia of the thymus Posterior embryotoxon Polymicrogyria Autoimmunity Intellectual disability, moderate Long eyelashes Cone-shaped epiphyses of the phalanges of the hand Short clavicles Abnormality of the clavicle Sprengel anomaly Proportionate short stature High pitched voice Language impairment Preauricular pit Trigonocephaly Abnormality of the voice Abnormality of the hand Nephrocalcinosis Generalized hirsutism Enuresis Apraxia Prominent nose Underdeveloped nasal alae Hirsutism Hypoplasia of the maxilla Malabsorption Joint hyperflexibility Prominent nasal bridge Wide mouth Joint stiffness Joint laxity Feeding difficulties in infancy Celiac disease Short columella Microtia Generalized cerebral atrophy/hypoplasia Hypothyroidism Narrow mouth Retrognathia Recurrent infections Immunodeficiency Thrombocytopenia Flexion contracture Anemia Milia Mesocardia Congenital posterior urethral valve Abnormal soft palate morphology Epididymal cyst Villous atrophy Enlarged naris Varicocele Persistent left superior vena cava Congenital pseudoarthrosis of the clavicle Expressive language delay Tethered cord Spinal dysraphism Stiff neck Mitral atresia Hyperextensibility of the finger joints Auricular pit Enlarged joints Exodeviation Stereotypy Abnormal aortic arch morphology Dermal translucency Papule Corneal opacity Retinopathy Skeletal dysplasia Rigidity Alopecia Nevus Superior pectus carinatum Abnormality of the intervertebral disk Slow-growing hair Cerebral calcification Fragile nails Arnold-Chiari type I malformation Abnormality of the elbow Broad neck Right bundle branch block Freckling Aplasia/Hypoplasia of the eyebrow Hypoplastic toenails Overfolded helix Cafe-au-lait spot Acrania Tetraplegia Optic nerve hypoplasia Lipodystrophy Arachnoid cyst Aplasia cutis congenita Absent septum pellucidum Cortical dysplasia Aphasia Dysphasia Multiple lipomas Muscle stiffness Hamartoma Hemiplegia Mutism Paralysis Sacral dimple Hemangioma Osteolysis Hemiparesis Aortic valve stenosis Abnormality of the face Pulmonary arterial hypertension Intellectual disability, profound Subcutaneous nodule Scarring Relative macrocephaly Patent foramen ovale Eyelid coloboma Hyperbilirubinemia Camptodactyly Proteinuria Polyhydramnios Cerebellar atrophy Edema Narrow foot Hypermethioninemia Portal fibrosis Secundum atrial septal defect Decreased liver function Arachnodactyly Progressive muscle weakness Cholestasis Hepatic steatosis Elevated hepatic transaminase Progressive Infantile onset Skeletal muscle atrophy Muscle weakness Sensorineural hearing impairment Autosomal recessive inheritance Ichthyosis Convex nasal ridge Coarse hair Hypertensive crisis Deep philtrum Abnormal palate morphology Mitral regurgitation Thick lower lip vermilion Webbed neck Carious teeth Sparse hair Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Prominent forehead Diffuse mesangial sclerosis Oligohydramnios Hand clenching Corpus callosum atrophy Focal segmental glomerulosclerosis Cortical gyral simplification Glomerulosclerosis Hypoalbuminemia Lissencephaly Leukodystrophy Pachygyria Narrow forehead Abnormality of the eyelashes Abnormality of the skull Decreased serum insulin-like growth factor 1 Obsessive-compulsive behavior U-Shaped upper lip vermilion Abnormal myelination Persistence of primary teeth Bronchomalacia Advanced eruption of teeth Self-mutilation Protruding tongue Tracheomalacia Abnormal renal morphology Bowel incontinence Tracheobronchomalacia Self-injurious behavior Impulsivity Chronic otitis media Apathy Tented upper lip vermilion Pyloric stenosis Psychosis Macroglossia Sleep disturbance Limitation of joint mobility Exaggerated cupid's bow Abnormality of the skeletal system Flat face Flat occiput Short proximal phalanx of finger Bifid tongue Mitral stenosis Abnormal localization of kidney Generalized joint laxity Recurrent hypoglycemia Single umbilical artery Cystic hygroma Phimosis Short middle phalanx of finger Short finger Congenital onset Multicystic kidney dysplasia Small nail Congenital diaphragmatic hernia Pulmonary hypoplasia Short distal phalanx of finger Talipes Genu valgum Small for gestational age Hypoglycemia Severe short stature Highly arched eyebrow Renal cyst Capillary hemangioma Subvalvular aortic stenosis Alopecia areata Tricuspid valve prolapse Abnormal nasolacrimal system morphology Subcutaneous lipoma Abnormal anterior chamber morphology Abnormal aortic morphology Visceral angiomatosis Aplasia cutis congenita of scalp Porencephalic cyst Bone cyst Hemihypertrophy Hemiatrophy Skin tags Ectopia pupillae Astrocytoma Craniofacial hyperostosis Nevus flammeus Xanthomatosis Dysostosis multiplex Echolalia Abnormal eyelid morphology Hypoplasia of the iris Epibulbar dermoid Subcortical cerebral atrophy Abnormality of the cerebral white matter Hernia Facial asymmetry Synophrys Broad forehead Developmental regression Dyspnea Aggressive behavior Gastroesophageal reflux Autism Brachycephaly Recurrent respiratory infections Arrhythmia Somatic mosaicism Malar flattening Renal insufficiency Lipomas of the central neryous system Abnormal cartilage morphology Linear hyperpigmentation Osteochondrosis Neurodevelopmental abnormality Neoplasm of the skeletal system Pelvic kidney Chorioretinitis Parathyroid agenesis



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