Delayed speech and language development, and Hepatosplenomegaly

Diseases related with Delayed speech and language development and Hepatosplenomegaly

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


Top matches:

High match ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Autosomal dominant inheritance
  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Tics


SOURCES: MESH MONDO OMIM UMLS

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

High match STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; SDCHCN

Stomatin-deficient cryohydrocytosis with neurologic defects is an autosomal dominant disorder characterized by delayed psychomotor development, seizures, cataracts, and pseudohyperkalemia resulting from defects in the red blood cell membrane. The disorder combines the neurologic features of Glut1 deficiency syndrome-1 (GLUT1DS1 ), resulting from impaired glucose transport at the blood-brain barrier, and hemolytic anemia/pseudohyperkalemia with stomatocytosis, resulting from a cation leak in erythrocytes (summary by Bawazir et al., 2012).For a discussion of clinical and genetic heterogeneity of red cell stomatocyte disorders, see {194380}.

STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; SDCHCN Is also known as glut1 deficiency syndrome with pseudohyperkalemia and hemolysis, cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly;chc type 2; hereditary cryohydrocytosis type 2; stomatin-deficient cryohydrocytosis; sdchc

Related symptoms:

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


SOURCES: ORPHANET MONDO MESH OMIM UMLS

More info about STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; SDCHCN

High match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency;gsd due to phosphoglycerate kinase 1 deficiency; glycogenosis due to phosphoglycerate kinase 1 deficiency

Related symptoms:

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


SOURCES: MESH GARD MONDO OMIM ORPHANET NCIT UMLS

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

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Other less relevant matches:

High match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J

COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J Is also known as cdg iij;cdgiij;cdg syndrome type iij; cdg-iij; cdg2j; carbohydrate deficient glycoprotein syndrome type iij; congenital disorder of glycosylation type 2j; congenital disorder of glycosylation type iij

Related symptoms:

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


SOURCES: MONDO GARD SCTID ORPHANET UMLS OMIM

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J

High match MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB

Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency of lysosomal beta-mannosidase activity. The most severely affected patients show developmental delay and mental retardation, but there are differing levels of severity and some patients may have comparatively mild disease (Bedilu et al., 2002) The disorder was first described in goats (Jones and Dawson, 1981), who have a more severe neurodegenerative disorder than that seen in humans.

MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB Is also known as beta-mannosidosis, lysosomal beta-mannosidase deficiency, beta-mannosidase deficiency;beta-mannosidase deficiency

Related symptoms:

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


SOURCES: OMIM MONDO SCTID MESH DOID NCIT ORPHANET GARD UMLS

More info about MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB

High match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type;sialuria, french type

Related symptoms:

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


SOURCES: OMIM GARD MONDO ORPHANET DOID

More info about SIALURIA

Medium match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20

Autosomal recessive spinocerebellar ataxia-20 is a neurodevelopmental disorder characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy (summary by Thomas et al., 2014).

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20 Is also known as ;autosomal recessive spinocerebellar ataxia type 20; intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; scar20

Related symptoms:

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


SOURCES: MONDO ORPHANET OMIM UMLS DOID

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20

Medium match SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS

Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016).

SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS Is also known as amish infantile epilepsy syndrome, epilepsy syndrome, infantile-onset symptomatic, gm3 synthase deficiency, salt and pepper mental retardation syndrome;infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome

Related symptoms:

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


SOURCES: OMIM MONDO UMLS ORPHANET SCTID GARD

More info about SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS

Medium match MUCOLIPIDOSIS IV; ML4

Mucolipidosis IV is an autosomal recessive neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and ophthalmologic abnormalities. The lysosomal hydrolases in ML IV are normal, in contrast to most other storage diseases. The disorder results from a defect in transport along the lysosomal pathway, affecting membrane sorting and/or late steps of endocytosis, which causes intracellular accumulation of lysosomal substrates. Over 80% of the patients in whom the diagnosis of ML IV has been made are Ashkenazi Jews, including severely affected and mildly affected patients (Chen et al., 1998).

MUCOLIPIDOSIS IV; ML4 Is also known as ml iv, sialolipidosis;

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET NCIT SCTID GARD ICD10 MONDO

More info about MUCOLIPIDOSIS IV; ML4

Medium match PROLIDASE DEFICIENCY

Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. The disorder is clinically heterogeneous and severity varies widely. Features include chronic, slowly healing ulcerations, mainly on the legs and feet. The ulcers are often preceded by other dermatologic manifestations that may occur anywhere and include erythematous papular eruptions, telangiectasias with pruritus and photosensitivity, impetigo-like eruptions, pruritic eczematous lesions, and necrotic papules. Mild to severe mental retardation is often a feature, and recurrent respiratory tract infections, sometimes fatal, are common. Facial dysmorphism may include low hairline and hirsutism, saddle nose, ocular hypertelorism, micrognathia, a high-arched palate, mandibular protrusion, and exophthalmos. Clinical manifestations are usually detectable after birth or in early childhood, but late-onset cases have been reported (summary by Lupi et al., 2008).

PROLIDASE DEFICIENCY Is also known as ;hyperimidodipeptiduria

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: GARD MONDO ORPHANET MESH OMIM NCIT SCTID

More info about PROLIDASE DEFICIENCY

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Splenomegaly Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Autosomal recessive inheritance

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Hepatomegaly Absent speech Recurrent infections Hearing impairment Microcephaly Infantile onset Coarse facial features Recurrent respiratory infections Scoliosis Brachydactyly Visual impairment Spasticity Hyperreflexia Oxycephaly Macrocephaly Hypertonia Inability to walk Motor delay Cerebral cortical atrophy Developmental regression Prominent forehead Abnormality of metabolism/homeostasis Autosomal dominant inheritance Macroglossia Failure to thrive Tics

Rare Symptoms - Less than 30% cases


Flexion contracture High palate Generalized hirsutism Visual loss Low posterior hairline Growth delay Retinal dystrophy Abnormality of retinal pigmentation Frontal bossing Diarrhea Inguinal hernia Long philtrum Intellectual disability, mild Epicanthus Anemia Dry skin Respiratory tract infection Feeding difficulties Hypertelorism Hypoplasia of the corpus callosum Cerebral atrophy Thrombocytopenia Elevated hepatic transaminase Developmental stagnation Irritability Attention deficit hyperactivity disorder Hyperactivity Palmoplantar keratoderma Cognitive impairment Nevus Tetraparesis Retinal degeneration Hyperbilirubinemia Abnormality of the cerebral white matter Recurrent infection of the gastrointestinal tract Short stature Cataract Babinski sign Cerebellar atrophy Muscular hypotonia Optic atrophy Jaundice Hemolytic anemia Chronic diarrhea Hernia Skeletal dysplasia Multifocal epileptiform discharges Hyporeflexia of upper limbs Developmental stagnation at onset of seizures Strabismus Myopia Gait disturbance Dystonia Behavioral abnormality Reduced visual acuity Photophobia EEG abnormality Retinopathy Hypertrichosis Abnormality of the nervous system Ranula Increased serum lactate Corneal opacity Short palpebral fissure Everted lower lip vermilion Clonus Esotropia Microdontia High myopia Pallor Dental crowding Relative macrocephaly Myoclonus Mandibular prognathia Generalized seizures Status epilepticus Midface retrusion Gingival overgrowth Macule Vomiting Lipodystrophy Global brain atrophy Blindness Progressive neurologic deterioration Intellectual disability, severe Feeding difficulties in infancy Generalized tonic-clonic seizures Hypermelanotic macule Abnormal retinal morphology Choreoathetosis Red urine Wide nasal base Lower limb hyperreflexia Abnormality of skin pigmentation Cortical visual impairment Broad philtrum Athetosis Broad face Periorbital wrinkles Genu recurvatum Spastic tetraplegia Asthma Inflammatory abnormality of the skin Abnormal lung morphology Bilateral single transverse palmar creases Low anterior hairline Skin ulcer Lymphedema Sinusitis Hepatitis Reduced bone mineral density Thin skin Cutaneous photosensitivity Depressed nasal ridge Recurrent pneumonia Convex nasal ridge Eczema Hirsutism Abnormality of the fingernails Systemic lupus erythematosus Papule Myelitis Crusting erythematous dermatitis Diffuse telangiectasia Facial hirsutism Poliosis Abnormality of the middle ear White forelock Chronic lung disease Hypoplasia of the zygomatic bone Osteomyelitis Petechiae Prolonged neonatal jaundice Elevated erythrocyte sedimentation rate Aplasia/Hypoplasia of the skin Abnormality of the hip bone Abnormality of the immune system Psoriasiform dermatitis Arachnodactyly Carious teeth Opacification of the corneal stroma Severe visual impairment Dysplastic corpus callosum Esodeviation Titubation Abnormal nasal morphology Decreased light- and dark-adapted electroretinogram amplitude Aplasia/Hypoplasia of the abdominal wall musculature Motor deterioration Neuronal loss in central nervous system Hoarse cry Increased serum ferritin Palpebral edema Abnormality of abdomen morphology Gout Biparietal narrowing Aspiration Abnormal electroretinogram Cerebral dysmyelination Progressive psychomotor deterioration Genu valgum Edema Pruritus Skin rash Proptosis Hyperkeratosis Erythema Obesity Short nose Downslanted palpebral fissures Oligosacchariduria Depressed nasal bridge Milia Ptosis Micrognathia Abnormality of mucopolysaccharide metabolism Abnormality of ganglioside metabolism Truncal titubation Apraxia Prolonged prothrombin time Thick vermilion border Rhabdomyolysis Recurrent myoglobinuria Exercise-induced muscle cramps Increased muscle fatiguability Decreased mean corpuscular volume Myoglobinuria Progressive encephalopathy Acute kidney injury Sparse hair Reticulocytosis Emotional lability Exercise intolerance Purpura Spastic tetraparesis Migraine Exercise-induced myoglobinuria Fever Muscular dystrophy Abnormality of the coagulation cascade Intermittent diarrhea Thick hair Diffuse cerebral atrophy Limb hypertonia Shock Failure to thrive in infancy Recurrent upper respiratory tract infections Muscular hypotonia of the trunk Elevated alkaline phosphatase Hypercholesterolemia Sloping forehead Sepsis Hepatic failure Cirrhosis Muscle cramps Mental deterioration Frontotemporal cerebral atrophy Anhidrosis Macrotia Fine hair Bronchiectasis Hypohidrosis Hydrocephalus Leukocytosis Agammaglobulinemia Paraplegia Concave nasal ridge Heat intolerance Conical tooth Lymphocytosis Hidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Spastic paraplegia Delayed myelination Myalgia Myopathy Hypodontia Rod-cone dystrophy X-linked recessive inheritance Encephalopathy Fatigue Renal insufficiency Ectodermal dysplasia Sparse scalp hair Hypoglycorrhachia Zonular cataract Hemoglobinuria Conjugated hyperbilirubinemia Broad neck Hyperkalemia Generalized neonatal hypotonia Neonatal sepsis Delayed eruption of teeth Thoracic hypoplasia Upper airway obstruction Dysostosis multiplex Hyperkinesis Protuberant abdomen Episodic abdominal pain Hypoplastic nipples 2-3 toe syndactyly Periorbital fullness Sleep apnea Cholelithiasis Hoarse voice Memory impairment High, narrow palate Joint hypermobility Prolonged partial thromboplastin time Aplasia of the sweat glands Synophrys Hyporeflexia Talipes Autistic behavior Camptodactyly Kyphoscoliosis Clinodactyly Cerebellar hypoplasia Talipes equinovarus Abnormality of the mitochondrion Anteverted nares Sensorineural hearing impairment Pica Expressive language delay Spinal deformities Long hallux Smooth philtrum Thin upper lip vermilion Type II transferrin isoform profile Ventriculomegaly Neurological speech impairment Aggressive behavior Brachycephaly Dilatation Immunodeficiency Tremor Skeletal muscle atrophy Narrow palpebral fissure Peripheral neuropathy Arthritis Abnormal protein N-linked glycosylation Abnormal protein O-linked glycosylation Complex febrile seizures Fatal liver failure in infancy Intention tremor Impulsivity Abdominal pain Tortuosity of conjunctival vessels Wide nasal bridge Pain Low-set ears Pneumonia Increased urinary disaccharide excretion Hypoplasia of the abdominal wall musculature Urinary glycosaminoglycan excretion Proximal amyotrophy Aspartylglucosaminuria Phonic tics Angiokeratoma corporis diffusum Angiokeratoma Demyelinating peripheral neuropathy Pendular nystagmus Recurrent cystitis


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