Delayed speech and language development, and Pulmonary arterial hypertension

Diseases related with Delayed speech and language development and Pulmonary arterial hypertension

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


Top matches:

Medium match CHROMOSOME 3q29 DELETION SYNDROME

3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

CHROMOSOME 3q29 DELETION SYNDROME Is also known as microdeletion 3q29 syndrome;3q subtelomere deletion syndrome; 3qter deletion; del(3)(q29); monosomy 3q29; monosomy 3qter

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Pica
  • Microcephaly


SOURCES: OMIM MONDO ORPHANET UMLS SCTID MESH GARD DOID

More info about CHROMOSOME 3q29 DELETION SYNDROME

Medium match CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME

17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME Is also known as ;17q23.1-q23.2 microdeletion syndrome; del(17)(q23.1q23.2); monosomy 17q23.1-q23.2; monosomy 17q23.1q23.2

Related symptoms:

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


SOURCES: SCTID OMIM UMLS DOID GARD ORPHANET MONDO

More info about CHROMOSOME 17q23.1-q23.2 DELETION SYNDROME

Medium 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

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Other less relevant matches:

Medium match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1

Multiple mitochondrial dysfunctions syndrome is a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death (summary by Seyda et al., 2001). Genetic Heterogeneity of Multiple Mitochondrial Dysfunctions SyndromeSee also MMDS2 (OMIM ), caused by mutation in the BOLA3 gene (OMIM ) on chromosome 2p13; MMDS3 (OMIM ), caused by mutation in the IBA57 gene (OMIM ) on chromosome 1q42; MMDS4 (OMIM ), caused by mutation in the ISCA2 gene (OMIM ) on chromosome 14q24; and MMDS5 (OMIM ), caused by mutation in the ISCA1 gene (OMIM ) on chromosome 9q21.

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1 Is also known as mmds;nfu1 deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Motor delay


SOURCES: DOID ORPHANET UMLS MONDO OMIM

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1

Medium match LIPOYLTRANSFERASE 1 DEFICIENCY; LIPT1D

LIPOYLTRANSFERASE 1 DEFICIENCY; LIPT1D Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Hypertension
  • Infantile onset


SOURCES: ORPHANET MONDO UMLS OMIM

More info about LIPOYLTRANSFERASE 1 DEFICIENCY; LIPT1D

Medium match MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME

MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME Is also known as mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy;

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Cryptorchidism
  • Hypertension
  • Edema


SOURCES: GARD ORPHANET MONDO UMLS OMIM

More info about MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME

Medium match HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS

HUPRA syndrome is a severe autosomal recessive multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely (summary by Belostotsky et al., 2011).

HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS Is also known as hupra syndrome;hupra syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Anemia


SOURCES: MONDO ORPHANET OMIM UMLS

More info about HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS

Medium match SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM

SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM Is also known as chondrodysplasia, megarbane-dagher-melki type;

Related symptoms:

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


SOURCES: MESH MONDO ORPHANET OMIM UMLS

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE; SMDMDM

Medium match PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; PASNA

PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; PASNA Is also known as ;apa with seizures and neurological abnormalities; aldosterone-secreting adenoma with seizures and neurological abnormalities; conn adenoma with seizures and neurological abnormalities

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity


SOURCES: ORPHANET MONDO UMLS OMIM

More info about PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; PASNA

Medium match SYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Muscular hypotonia
  • Ptosis


SOURCES: ORPHANET

More info about SYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Pulmonary arterial hypertension

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Hypertension Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Pulmonary arterial hypertension. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Autosomal dominant inheritance Small for gestational age Patent ductus arteriosus Behavioral abnormality Frontal bossing Sporadic Abnormal facial shape

Rare Symptoms - Less than 30% cases


Alkalosis Depressed nasal bridge Hypertonia Weak cry Spasticity Ventricular septal defect Aortic valve stenosis Tachypnea Sandal gap Subvalvular aortic stenosis Short stature Scoliosis Growth delay Muscular hypotonia Cryptorchidism Talipes equinovarus Metabolic alkalosis Atrial septal defect Mutism Ventricular hypertrophy Retinopathy Postnatal growth retardation Seizures Tetraplegia Cerebral cortical atrophy Respiratory insufficiency Sacral dimple Type 2 muscle fiber atrophy Lactic acidosis Coarctation of aorta Hypoplasia of the corpus callosum Clinodactyly of the 5th finger Muscle weakness Infantile onset Increased serum lactate Abnormality of the genital system Microphthalmia Short nose Macrocephaly High palate Epicanthus Gastroesophageal reflux Muscular hypotonia of the trunk Metabolic acidosis Low-set ears Acidosis Respiratory failure Microcephaly Feeding difficulties Aggressive behavior Pica Congestive heart failure Leukopenia Hyponatremia Narrow chest Peripheral demyelination Polyuria Premature birth Proteinuria Recurrent hypoglycemia Diabetes mellitus Chronic kidney disease Hyperuricemia Gliosis Delayed skeletal maturation Hypomagnesemia Renal salt wasting Micromelia Platyspondyly Microtia Thrombocytopenia Hyperechogenic kidneys Prominent forehead Hypochloremic metabolic alkalosis Short neck Anteverted nares Abnormality of the cerebral white matter Anemia Renal insufficiency Cardiorespiratory arrest Intestinal malrotation Stroke Dilatation Edema Increased total bilirubin Severe lactic acidosis Respiratory arrest Decreased liver function Abnormal lung morphology Spastic tetraparesis Bradycardia Tetraparesis Abnormality of extrapyramidal motor function Developmental regression Delayed myelination Death in infancy Abnormal pyramidal sign Aortic aneurysm Decreased activity of the pyruvate dehydrogenase complex Coma Abnormality of the liver Hyperperistalsis Decreased activity of mitochondrial respiratory chain Retinal infarction Cerebellar atrophy Cystic lung disease Periventricular white matter hyperdensities Mydriasis Cholelithiasis Dystonia Thoracic aortic aneurysm Colpocephaly Ascending tubular aorta aneurysm Dilatation of the cerebral artery Abnormality of the vasculature Elevated hepatic transaminase Jaundice Asthma Squared iliac bones Wide nose Proximal muscle weakness Easy fatigability Poor head control Poor suck Scapular winging Frequent falls Generalized muscle weakness Waddling gait Distal muscle weakness Facial palsy Ophthalmoparesis Mandibular prognathia Areflexia Hyporeflexia Respiratory distress Dysphagia Skeletal muscle atrophy Myopathy Ptosis EMG: impaired neuromuscular transmission Neonatal respiratory distress Sleep apnea Second degree atrioventricular block EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Abnormal synaptic transmission at the neuromuscular junction Prolonged miniature endplate currents Slow pupillary light response Abnormal enzyme/coenzyme activity Limited wrist extension Decreased size of nerve terminals Limited extraocular movements Impaired mastication Triangular mouth Bilateral ptosis Hand muscle weakness Axial muscle weakness Abnormality of the knee Right ventricular hypertrophy Type 1 muscle fiber predominance Recurrent lower respiratory tract infections Exertional dyspnea Hypoventilation Neck muscle weakness Primary hyperaldosteronism Focal myoclonic seizures Round face Metaphyseal cupping Abnormality of the nervous system Headache Blindness Intellectual disability, severe Iliac crest serration Severe platyspondyly Hypoplastic ischia Spondylometaphyseal dysplasia Bell-shaped thorax Epistaxis Delayed epiphyseal ossification Deep philtrum Short long bone Wormian bones Short ribs Cardiomegaly Wide anterior fontanel Large fontanelles Limb undergrowth Spastic paraplegia Spastic tetraplegia Abnormal circulating renin Polydipsia Uterine rupture Caesarian section Biventricular hypertrophy Decreased circulating renin level Adrenal hyperplasia Hyperaldosteronism Atrioventricular block Focal seizures with impairment of consciousness or awareness Intracranial hemorrhage Hypokalemia Generalized tonic-clonic seizures Tinnitus Patent foramen ovale Cerebral palsy Left ventricular hypertrophy Nausea Nephrolithiasis Generalized seizures Cortical visual impairment Athetosis Lethargy Abnormal aortic morphology Irritability Hypertelorism Abnormality of cardiovascular system morphology Malar flattening Intellectual disability, mild Abnormality of the skeletal system Intrauterine growth retardation Hyperreflexia Strabismus Hearing impairment Pes planus Six lumbar vertebrae Broad face Bipolar affective disorder Shallow orbits Nasal speech Aspiration Stereotypy Horseshoe kidney Narrow mouth Protruding ear Narrow face Chronic otitis media Bifid nose Moderate global developmental delay Mild global developmental delay Blepharitis Shawl scrotum Slender finger Long fingers Congenital contracture Widely spaced teeth Dyspnea Bicuspid aortic valve Bilateral single transverse palmar creases Long eyelashes Abnormality of epiphysis morphology Esotropia Limitation of joint mobility Highly arched eyebrow Bulbous nose Anorexia Dental crowding Long toe Pectus excavatum Hyperactivity Macrotia Gait ataxia Clinodactyly Posteriorly rotated ears Depressivity Hernia Hypospadias Inguinal hernia Intellectual disability, moderate Abnormality of the dentition Gait disturbance Downslanted palpebral fissures Cognitive impairment Milia Cataract Micrognathia Ataxia Autism Thin upper lip vermilion Recurrent otitis media Long face Otitis media Psychosis Oral cleft Prominent nose Single transverse palmar crease Tapered finger Abnormality of skin pigmentation Everted lower lip vermilion Pulmonic stenosis Joint laxity Facial asymmetry Cleft lip Joint hyperflexibility Pectus carinatum Attention deficit hyperactivity disorder Prominent nasal bridge Short philtrum Anxiety Patellar hypoplasia Shallow acetabular fossae Hypoglycemia Nevus flammeus Bone cyst Peripheral pulmonary artery stenosis Hemihypertrophy Skin tags Ectopia pupillae Astrocytoma Craniofacial hyperostosis Xanthomatosis Aplasia cutis congenita of scalp Dysostosis multiplex Echolalia Sclerocornea Abnormal eyelid morphology Hypoplasia of the iris Capillary hemangioma Abnormality of the skull Eyelid coloboma Porencephalic cyst Visceral angiomatosis Abnormality of the eyelashes Chorioretinitis Motor delay Lipomas of the central neryous system Abnormal cartilage morphology Linear hyperpigmentation Osteochondrosis Neurodevelopmental abnormality Neoplasm of the skeletal system Pelvic kidney Somatic mosaicism Interrupted aortic arch Subcortical cerebral atrophy Hemiatrophy Epibulbar dermoid Alopecia areata Tricuspid valve prolapse Abnormal nasolacrimal system morphology Subcutaneous lipoma Abnormal anterior chamber morphology Glioma Arachnoid cyst Retinopathy of prematurity Alopecia Papule Corneal opacity Neurological speech impairment Coloboma Skeletal dysplasia Rigidity Hydronephrosis Oxycephaly Agenesis of corpus callosum Acrania Cerebellar hypoplasia Cerebral atrophy Hydrocephalus Ventriculomegaly Nevus Neoplasm Chalazion Coxa magna Iris coloboma Cerebral calcification Aplasia cutis congenita Hemiplegia Absent septum pellucidum Cortical dysplasia Aphasia Dysphasia Multiple lipomas Muscle stiffness Hamartoma Lipoma Lipodystrophy Paralysis Hemangioma Osteolysis Hemiparesis Dandy-Walker malformation Abnormality of the face Intellectual disability, profound Subcutaneous nodule Scarring Unfavorable response of muscle weakness to acetylcholine esterase inhibitors



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