Delayed speech and language development, and Decreased antibody level in blood

Diseases related with Delayed speech and language development and Decreased antibody level in blood

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


Top matches:

Low match IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

IMDDHH is a multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. Additional features, such as congenital heart defects and liver involvement, are more variable (summary by Huppke et al., 2017).

Related symptoms:

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


SOURCES: OMIM

More info about IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA; IMDDHH

Low 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

Low match OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Related symptoms:

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


SOURCES: OMIM UMLS MONDO

More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

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Other less relevant matches:

Low match AGAMMAGLOBULINEMIA, X-LINKED; XLA

X-linked agammaglobulinemia is an immunodeficiency characterized by failure to produce mature B lymphocytes and associated with a failure of Ig heavy chain rearrangement. The defect in this disorder resides in BTK, also known as BPK or ATK, a key regulator in B-cell development (Rawlings and Witte, 1994). The X-linked form accounts for approximately 85 to 90% of cases of the disorder. Also see {300310}. The remaining 15% of cases constitute a heterogeneous group of autosomal disorders (Lopez Granados et al., 2002; Ferrari et al., 2007). See agammaglobulinemia-1 (AGM1 ) for a discussion of genetic heterogeneity of the autosomal forms of agammaglobulinemia.

AGAMMAGLOBULINEMIA, X-LINKED; XLA Is also known as bruton-type agammaglobulinemia, agammaglobulinemia, x-linked, type 1;agmx1, immunodeficiency 1;imd1;btk-deficiency; bruton type agammaglobulinemia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: SCTID OMIM ORPHANET

More info about AGAMMAGLOBULINEMIA, X-LINKED; XLA

Low match TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as trichothiodystrophy, photosensitive;ttdp, ichthyosiform erythroderma with hair abnormality and mental and growth retardation, tay syndrome, trichothiodystrophy with congenital ichthyosis;ichthyosis, congenital, with trichothiodystrophy, pibids syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Pica


SOURCES: OMIM MONDO ORPHANET

More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

Low match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4

Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Motor delay


SOURCES: UMLS OMIM MONDO DOID

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4

Low match MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis, lysosomal alpha-d-mannosidase deficiency, alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET SCTID

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Low match RITSCHER-SCHINZEL SYNDROME 1; RTSC1

The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have severe developmental delay (summary by Leonardi et al., 2001; Seidahmed et al., 2011). Genetic Heterogeneity of Ritscher-Schinzel SyndromeSee also RTSC2 (OMIM ), caused by mutation in the CCDC22 gene (OMIM ) on chromosome Xp11.

RITSCHER-SCHINZEL SYNDROME 1; RTSC1 Is also known as craniocerebellocardiac dysplasia, 3c syndrome, dandy-walker-like malformation with atrioventricular septal defect;craniocerebellocardiac dysplasia; ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: SCTID UMLS OMIM MONDO DOID ORPHANET

More info about RITSCHER-SCHINZEL SYNDROME 1; RTSC1

Low match OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7

Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.

OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 Is also known as osteopetrosis, osteoclast-poor, with hypogammaglobulinemia;autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia; autosomal recessive osteopetrosis type 7

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Nystagmus
  • Anemia
  • Fever


SOURCES: MONDO ORPHANET OMIM MESH UMLS DOID GARD

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7

Low match IMMUNODEFICIENCY 36; IMD36

IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Growth delay
  • Splenomegaly
  • Diarrhea


SOURCES: MONDO UMLS OMIM

More info about IMMUNODEFICIENCY 36; IMD36

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Decreased antibody level in blood

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Decreased antibody level in blood. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pica Recurrent respiratory infections Autosomal recessive inheritance Hypertelorism Chronic diarrhea Respiratory tract infection Pneumonia Arthritis Failure to thrive Short stature Nystagmus Diarrhea Depressed nasal bridge Alopecia Sparse hair Epicanthus Agammaglobulinemia Microcephaly Generalized hypotonia Splenomegaly Frontal bossing Tics Autosomal dominant inheritance Recurrent pneumonia Ataxia Scoliosis Recurrent bacterial infections

Rare Symptoms - Less than 30% cases


Short neck Optic atrophy Brachydactyly Babinski sign Narrow palate Ventriculomegaly Behavioral abnormality Hydrocephalus Wide nasal bridge Seizures Anemia Muscular hypotonia IgG deficiency Hearing impairment Sensorineural hearing impairment Strabismus Nevus Fever Flexion contracture Autoimmunity Cognitive impairment Cataract Malabsorption Otitis media Lymphopenia Chronic otitis media Feeding difficulties Macrocephaly Low-set ears Bronchiectasis Oxycephaly Fine hair Hepatosplenomegaly Skeletal dysplasia Dry skin Broad forehead IgA deficiency Atrial septal defect Inguinal hernia Cellulitis Myopathy Kyphosis Micrognathia Abnormality of the skeletal system Prominent forehead Optic disc pallor Cleft palate Abnormal facial shape Generalized abnormality of skin Spinocerebellar tract disease in lower limbs Antineutrophil antibody positivity Hypoplastic inferior ilia Downslanted palpebral fissures Increased vertebral height Spondylolysis Type II diabetes mellitus Intrauterine growth retardation Patent ductus arteriosus Ventricular septal defect Abnormality of the genital system Gastroesophageal reflux Hip dysplasia Progressive cerebellar ataxia Neurodegeneration High forehead Abnormal heart morphology Glaucoma Short nose Brachycephaly Cerebellar hypoplasia Syndactyly Peripheral demyelination Hypospadias Abnormality of cardiovascular system morphology Coma Synostosis of joints Abnormality of the rib cage Retinal thinning Prominent supraorbital ridges Pancytopenia Femoral bowing Progressive neurologic deterioration Open bite Flat occiput Increased intracranial pressure Hypertrichosis Depressed nasal ridge Limb ataxia Bowing of the long bones Widely spaced teeth Low anterior hairline Gingival overgrowth Spastic gait Tall stature Psychosis Thoracolumbar kyphosis Severe sensorineural hearing impairment Vacuolated lymphocytes Spondylolisthesis Hallucinations Abnormality of the helix Craniofacial hyperostosis Dysostosis multiplex Impaired smooth pursuit Bowel incontinence Hydrocele testis Small face Delusions Bronchitis Aseptic necrosis Thickened calvaria Feeding difficulties in infancy Oral cleft Hydronephrosis Aplasia/Hypoplasia of the nipples Neural tube defect Conotruncal defect Complete atrioventricular canal defect Lethal skeletal dysplasia Double outlet right ventricle Mitral stenosis Communicating hydrocephalus Enlarged cisterna magna Abnormal tricuspid valve morphology Posterior embryotoxon Single umbilical artery Ectopic anus Missing ribs Hypoplastic fingernail Adrenal hypoplasia Pierre-Robin sequence Congenital glaucoma Abnormal mitral valve morphology Abnormality of the fontanelles or cranial sutures Mesomelia Abnormal trabecular bone morphology Allergy Recurrent sinopulmonary infections Neurodevelopmental delay Inflammation of the large intestine Recurrent upper respiratory tract infections Lymphoma Lymphadenopathy Optic nerve compression Lateral clavicle hook Osteopetrosis Progressive visual loss Primum atrial septal defect Cerebellar malformation Humoral immunodeficiency Contractures of the large joints Facial hemangioma Posterior fossa cyst Atrioventricular canal defect Hypoplastic left heart Postnatal growth retardation Abnormality of the kidney Renal agenesis Postural instability Bifid uvula Death in infancy High, narrow palate Iris coloboma Pulmonic stenosis Cleft lip Tetralogy of Fallot Abnormal cardiac septum morphology Toe syndactyly Neurological speech impairment Camptodactyly Prominent nasal bridge Coloboma Finger syndactyly Anal atresia Hypoplasia of penis Low posterior hairline Prominent occiput Wormian bones Abnormality of neuronal migration Abnormality of the hip bone Unilateral renal agenesis Aplasia/Hypoplasia of the cerebellum Chorioretinal coloboma Abnormality of the hand Hand polydactyly Hemivertebrae Horseshoe kidney Growth hormone deficiency Preauricular skin tag Aortic valve stenosis Dandy-Walker malformation Large fontanelles Cerebellar vermis hypoplasia Limb undergrowth Intestinal malrotation Delayed myelination Dental malocclusion Muscle weakness Macroglossia Dementia Hepatitis Sepsis Neutropenia Skin rash Retinopathy Weight loss Rod-cone dystrophy Skin ulcer X-linked recessive inheritance Depressivity Dilatation Encephalopathy Thrombocytopenia Fatigue Neoplasm Sinusitis Recurrent urinary tract infections Atonic seizures Myositis Recurrent cutaneous abscess formation Pyoderma Thymoma Abnormality of the lymphatic system Cor pulmonale Myelopathy Glossoptosis Rheumatoid arthritis Meningitis Osteomyelitis Encephalitis Hypopigmented skin patches Hypocalcemia Conjunctivitis Telangiectasia Abnormal lung morphology Protruding tongue Cortical gyral simplification Epididymitis Hypodontia Concave nasal ridge Anhidrosis Leukocytosis Hypohidrosis Sparse scalp hair Ectodermal dysplasia Infantile onset Conical tooth Recurrent skin infections Bicuspid aortic valve Hoarse voice Absence seizures Abnormality of the cerebral white matter Cardiomyopathy Tremor Heat intolerance Lymphocytosis Pachygyria Constipation Highly arched eyebrow Joint hypermobility Synophrys Attention deficit hyperactivity disorder Joint laxity Thin upper lip vermilion Clinodactyly Dysphagia Hidrotic ectodermal dysplasia Anteverted nares High palate Ptosis Aplasia of the sweat glands Periorbital wrinkles Anhidrotic ectodermal dysplasia Recurrent infection of the gastrointestinal tract Septic arthritis Prostatitis Gliosis Motor delay Gait disturbance Dysarthria Hyperreflexia Hepatomegaly Spasticity Congenital onset Lack of subcutaneous fatty tissue Cerebellar atrophy Jerky ocular pursuit movements Titubation Corneal neovascularization Trichorrhexis nodosa Congenital nonbullous ichthyosiform erythroderma Abnormality of hair texture Fragile nails Intellectual disability, severe Intellectual disability, mild Woolly hair Macrotia Acrania Thick eyebrow Corneal opacity Retinal degeneration Pectus carinatum Ranula Mental deterioration Coarse facial features Malar flattening Gait ataxia Mandibular prognathia Cerebral cortical atrophy Hernia Delayed skeletal maturation Midface retrusion Cerebral atrophy Pili torti Progeroid facial appearance Abnormality of the tonsils Protruding ear Eczema Nail dysplasia Microcornea Nail dystrophy Ichthyosis Small for gestational age Photophobia Small nail Hypogonadism Retrognathia Areflexia Microphthalmia Enteroviral hepatitis Enteroviral dermatomyositis syndrome Lymph node hypoplasia Cutaneous photosensitivity Asthma Alopecia of scalp Decreased fertility Keratoconjunctivitis sicca Congenital ichthyosiform erythroderma Hyperactive deep tendon reflexes Nuclear cataract Intestinal obstruction Freckling Basal cell carcinoma Erythroderma Abnormality of the face Squamous cell carcinoma Spastic diplegia Abnormality of the thorax Brittle hair Dysphonia Macular degeneration Increased bone mineral density Enlarged tonsils



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