Delayed speech and language development, and Dehydration

Diseases related with Delayed speech and language development and Dehydration

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


Top matches:

Medium match ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY

gene (11q25).

ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY Is also known as ibd deficiency, acyl-coa dehydrogenase family, member 8, deficiency of, acad8 deficiency;isobutyric aciduria

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia


SOURCES: GARD MONDO ORPHANET OMIM SCTID MESH UMLS NCIT

More info about ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY

Medium match HSD10 MITOCHONDRIAL DISEASE; HSD10MD

HSD10 mitochondrial disease most commonly presents as an X-linked neurodegenerative disorder with highly variable severity and age at onset ranging from the neonatal period to early childhood. The features are usually multisystemic, consistent with mitochondrial dysfunction. Some affected males have a severe infantile form associated with cardiomyopathy that may result in death in early childhood, whereas other rare patients may have juvenile onset or even atypical presentations with normal neurologic development. More severely affected males show developmental regression in infancy or early childhood, often associated with early-onset intractable seizures, progressive choreoathetosis and spastic tetraplegia, optic atrophy or retinal degeneration resulting in visual loss, and mental retardation. Heterozygous females may show non-progressive developmental delay and intellectual disability, but may also be clinically normal. Although the diagnosis can be aided by the observation of increased urinary levels of metabolites of isoleucine breakdown (2-methyl-3 hydroxybutyrate and tiglylglycine), there is not a correlation between these laboratory features and the phenotype. In addition, patients do not develop severe metabolic crises in the neonatal period as observed in other organic acidurias, but may show persistent lactic acidosis, most likely reflecting mitochondrial dysfunction (summary by Rauschenberger et al., 2010; review by Zschocke, 2012).In a review of the disorder, Zschocke (2012) noted that although this disorder was originally thought to be an inborn error of branched-chain fatty acid and isoleucine metabolism resulting from decreased HSD17B10 dehydrogenase activity (HSD17B10 'deficiency'), subsequent studies have shown that the HSD17B10 gene product has additional functions and also acts as a component of the mitochondrial RNase P holoenzyme, which is involved in mitochondrial tRNA processing and maturation and ultimately mitochondrial protein synthesis. The multisystemic features of HSD10MD most likely result from the adverse effect of HSD17B10 mutations on mitochondrial function, rather than from the effects on the dehydrogenase activity (see PATHOGENESIS below).

HSD10 MITOCHONDRIAL DISEASE; HSD10MD Is also known as hsd17b10 deficiency, 17-beta-hydroxysteroid dehydrogenase x deficiency, 3-hydroxyacyl-coa dehydrogenase ii deficiency, 2-methyl-3-hydroxybutyryl-coa dehydrogenase deficiency, mhbd deficiency, mental retardation, x-linked, syndromic 10;mrxs10, chorioathetosis with mental retardation and abnormal behavior;camr, mental retardation with chorioathetosis and abnormal behavior

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: SCTID ORPHANET UMLS OMIM

More info about HSD10 MITOCHONDRIAL DISEASE; HSD10MD

Medium match WOODHOUSE-SAKATI SYNDROME

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome, extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia;diabetes-hypogonadism-deafness-intellectual disability syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis


SOURCES: GARD SCTID ORPHANET OMIM MONDO UMLS MESH

More info about WOODHOUSE-SAKATI SYNDROME

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Other less relevant matches:

Medium match COLD-INDUCED SWEATING SYNDROME 1; CISS1

Cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Cold-Induced Sweating SyndromeCold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome, sohar-crisponi syndrome, muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death;ciss

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Pica


SOURCES: MONDO OMIM UMLS GARD ORPHANET MESH

More info about COLD-INDUCED SWEATING SYNDROME 1; CISS1

Medium match MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY; MCT1D

MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY; MCT1D Is also known as ;

Related symptoms:

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


SOURCES: ORPHANET MONDO UMLS OMIM

More info about MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY; MCT1D

Medium match NEPHROGENIC DIABETES INSIPIDUS

Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive


SOURCES: UMLS ICD10 ORPHANET

More info about NEPHROGENIC DIABETES INSIPIDUS

Medium match DIARRHEA 2, WITH MICROVILLUS ATROPHY; DIAR2

Microvillus inclusion disease (MVID) is characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset MVID with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. Definite diagnosis is made by transmission electron microscopy demonstrating shortening or absence of apical microvilli with pathognomonic microvillus inclusions in mature enterocytes and peripheral accumulation of periodic acid-Schiff (PAS)-positive granules or vesicles in immature enterocytes (Muller et al., 2008). The natural course of MVID is often fatal, but partial or total weaning from parenteral nutrition has been described.

DIARRHEA 2, WITH MICROVILLUS ATROPHY; DIAR2 Is also known as microvillus inclusion disease;mvid, microvillus atrophy, congenital, davidson disease, congenital familial protracted diarrhea with enterocyte brush-border abnormalities, intractable diarrhea of infancy;congenital microvillous atrophy; congenital microvillus atrophy; mvid; microvillous inclusion disease

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Pica
  • Growth delay
  • Failure to thrive


SOURCES: GARD DOID UMLS ORPHANET OMIM SCTID MONDO

More info about DIARRHEA 2, WITH MICROVILLUS ATROPHY; DIAR2

Medium match METHYLMALONYL-CoA EPIMERASE DEFICIENCY

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency is a rare inborn error of metabolism disease characterized by mild to moderate, persistent elevation of methylmalonic acid in plasma, urine and cerebrospinal fluid. Clinical presentation may include acute metabolic decompensation with metabolic acidosis (presenting with vomiting, dehydration, confusion, hallucinations), nonspecific neurological symptoms, or may also be asymptomatic.

METHYLMALONYL-CoA EPIMERASE DEFICIENCY Is also known as methylmalonyl-coa racemase deficiency, methylmalonic aciduria iii, formerly;mcee deficiency; methylmalonic acidemia due to methylmalonyl-coa racemase deficiency; methylmalonic aciduria due to methylmalonyl-coa epimerase deficiency; methylmalonic aciduria due to methylmalonyl-coa racemase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Failure to thrive
  • Motor delay
  • Spasticity
  • Macrocephaly


SOURCES: MESH ORPHANET MONDO OMIM UMLS

More info about METHYLMALONYL-CoA EPIMERASE DEFICIENCY

Medium match ISOVALERIC ACIDEMIA; IVA

Isovaleric acidemia (IVA) is an autosomal recessively inherited organic aciduria characterized by a deficiency in isovaleryl-CoA dehydrogenase, that has wide clinical variability and that can present in infancy with acute manifestations of vomiting, failure to thrive, seizures, lethargy, a characteristic ''sweaty feet'' odor, acute pancreatitis and mild to severe developmental delay or in childhood with metabolic acidosis (brought on by prolonged fasting, an increased intake of protein-rich food or infections) and that can be fatal if not treated immediately. Chronic intermittent presentations and asymptomatic patients have also been reported.

ISOVALERIC ACIDEMIA; IVA Is also known as isovaleric acid coa dehydrogenase deficiency, ivd deficiency;isovaleric acid coa dehydrogenase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Hepatomegaly
  • Edema


SOURCES: SCTID NCIT OMIM MESH MONDO ICD10 ORPHANET GARD DOID UMLS

More info about ISOVALERIC ACIDEMIA; IVA

Medium match METHYLMALONIC ACIDURIA, cblB TYPE

Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Different forms of isolated methylmalonic aciduria have been classified according to complementation groups of cells in vitro. Patients with defects in the synthesis of AdoCbl are usually responsive to vitamin B12 therapy and are classified as 'cbl' type: these include cblB and cblA (OMIM ). The cblA type is caused by mutation in the MMAA gene (OMIM ). The 'mut' type (OMIM ) is caused by mutation in the MUT gene; in general, the mut form of MMA is unresponsive to vitamin B12 therapy.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).

METHYLMALONIC ACIDURIA, cblB TYPE Is also known as methylmalonic acidemia, cblb type, methylmalonic aciduria, vitamin b12-responsive, due to defect in synthesis of adenosylcobalamin, cblb type;vitamin b12-responsive methylmalonic aciduria, type cblb

Related symptoms:

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


SOURCES: DOID UMLS OMIM MONDO ORPHANET GARD NCIT

More info about METHYLMALONIC ACIDURIA, cblB TYPE

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Dehydration

Symptoms // Phenotype % cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Metabolic acidosis Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Acidosis Vomiting Intellectual disability Methylmalonic acidemia Methylmalonic aciduria Edema Aciduria Nevus Ketonuria Feeding difficulties Respiratory distress Polyhydramnios Dystonia Diarrhea Generalized hypotonia Muscular hypotonia Motor delay

Rare Symptoms - Less than 30% cases


Cognitive impairment Myopathy Coma Hepatomegaly Hearing impairment Abnormality of movement Ethylmalonic aciduria Athetosis Anemia Lethargy Choreoathetosis Hallucinations Hypovolemia Pica Scoliosis Thrombocytopenia Camptodactyly Fever Sensorineural hearing impairment Growth delay Hypernatremic dehydration Dysarthria Ketoacidosis Feeding difficulties in infancy Renal insufficiency Pancytopenia Encephalopathy Hyperglycinemia Intellectual disability, mild Disproportionate tall stature Opisthotonus Overlapping toe Episodic fever Limited elbow extension Keratitis Acute kidney injury Trismus Functional respiratory abnormality Bilateral camptodactyly Narrow nose Hypopnea Central apnea Large face Radial deviation of finger Temperature instability Velopharyngeal insufficiency Phimosis Wide nose Adducted thumb Carious teeth Hyperhidrosis Pes planus Kyphoscoliosis Facial palsy Dyspnea Blepharophimosis Apnea Attention deficit hyperactivity disorder Irritability Dolichocephaly Short palm Nasal speech Tapered finger Smooth tongue Highly arched eyebrow Falls Round face Full cheeks Underdeveloped nasal alae Generalized seizures Cyanosis Recurrent urinary tract infections Elbow flexion contracture Unexplained fevers Constipation Facial tics Abnormality of mitochondrial metabolism Abnormal renal physiology Abnormal delivery Abnormality of small intestinal villus morphology Spasticity Macrocephaly Hydrocephalus Oxycephaly Gastroesophageal reflux Neonatal onset Tachypnea Ketosis Stroke Protracted diarrhea Ischemic stroke Leukopenia Hyperammonemia Bone marrow hypocellularity Organic aciduria Cerebral edema Hyperglycinuria Abnormal myelination Episodic ketoacidosis Cerebellar hemorrhage Neutropenia Intractable diarrhea Villous atrophy Cold-induced sweating Hypernatremia Autosomal dominant inheritance Microcephaly Atrial septal defect Decreased adenosylcobalamin Ketotic hypoglycemia Short stature Nausea and vomiting Anorexia Polydipsia Hydroureter Nephrogenic diabetes insipidus Enuresis nocturna Malnutrition Hyposthenuria Functional abnormality of the bladder Mandibular prognathia Milia Abnormality of the mitochondrion Pruritus Malabsorption Death in infancy Sepsis Abdominal distention Nephrocalcinosis Abnormal intestine morphology Respiratory failure Pain Narrow mouth Hyperreflexia Progressive neurologic deterioration Horizontal nystagmus Spastic tetraparesis Drooling Agitation Mitochondrial myopathy Restlessness Diffuse cerebral atrophy Gastrointestinal dysmotility Loss of ability to walk Hypertelorism Peripheral neuropathy Downslanted palpebral fissures Tetraparesis Tics Frontal bossing Gait disturbance Abnormality of metabolism/homeostasis Babinski sign Alopecia Micropenis Diabetes mellitus Hypogonadism High forehead Hypothyroidism Protruding ear X-linked dominant inheritance Spastic tetraplegia Sparse hair Cerebral cortical atrophy Cardiomyopathy Dilated cardiomyopathy Pulmonic stenosis Decreased plasma carnitine Peripheral pulmonary artery stenosis Nystagmus Optic atrophy Infantile onset Tremor Dysphagia Blindness Cerebral atrophy Myoclonus Chorea Absent speech Gait ataxia Visual loss Rigidity Hypoglycemia Aggressive behavior Hypertrophic cardiomyopathy Clonus Developmental regression Neurological speech impairment Retinal degeneration Lactic acidosis Mental deterioration Prominent nasal bridge Clinodactyly Depressed nasal bridge Streak ovary Abnormal spermatogenesis Decreased serum insulin-like growth factor 1 Progressive extrapyramidal movement disorder Hypoplasia of the fallopian tube Abnormal T-wave Progressive alopecia Micrognathia Cleft palate Cryptorchidism Flexion contracture Low-set ears High palate Decreased serum estradiol Wide nasal bridge Short neck Anteverted nares Intellectual disability, severe Talipes equinovarus Hypoplasia of the corpus callosum Hypertonia Short nose Long philtrum Malar flattening Hyporeflexia Retrognathia Increased thyroid-stimulating hormone level Decreased serum testosterone level Arthrogryposis multiplex congenita Sparse scalp hair Delayed puberty Triangular face Sensory neuropathy Polyneuropathy Decreased testicular size Prominent nose Dental malocclusion Amenorrhea Bilateral sensorineural hearing impairment Abnormality of extrapyramidal motor function Psychosis Primary amenorrhea Fine hair Anodontia Myocardial infarction Hypergonadotropic hypogonadism Hypogonadotrophic hypogonadism Purpura Hyperlipidemia Premature ovarian insufficiency Flat occiput Aplasia/Hypoplasia of the eyebrow Sparse eyebrow Hypoplasia of the uterus Autoimmune thrombocytopenia Insulin-resistant diabetes mellitus Heart block Decreased methylmalonyl-CoA mutase activity



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