Delayed speech and language development, and Otitis media

Diseases related with Delayed speech and language development and Otitis media

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


Top matches:

Medium match SKRABAN-DEARDORFF SYNDROME; SKDEAS

SKDEAS is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip (summary by Skraban et al., 2017).

SKRABAN-DEARDORFF SYNDROME; SKDEAS Is also known as intellectual disability with seizures, abnormal gait, and distinctive facial features

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia


SOURCES: ORPHANET OMIM

More info about SKRABAN-DEARDORFF SYNDROME; SKDEAS

Medium match PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as nucleoside phosphorylase deficiency;pnp deficiency; pnpase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


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

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Medium match LUSCAN-LUMISH SYNDROME; LLS

Luscan-Lumish syndrome is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures (Luscan et al., 2014; Lumish et al., 2015)

Related symptoms:

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


SOURCES: MONDO OMIM UMLS

More info about LUSCAN-LUMISH SYNDROME; LLS

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Other less relevant matches:

Medium match ASPARTYLGLUCOSAMINURIA

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET SCTID

More info about ASPARTYLGLUCOSAMINURIA

Medium match CARDIOSPONDYLOCARPOFACIAL SYNDROME; CSCF

Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.

CARDIOSPONDYLOCARPOFACIAL SYNDROME; CSCF Is also known as mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones;forney syndrome; forney-robinson-pascoe syndrome; mitral regurgitation-deafness-skeletal anomalies syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: GARD UMLS MESH OMIM SCTID ORPHANET MONDO

More info about CARDIOSPONDYLOCARPOFACIAL SYNDROME; CSCF

Medium match FRAGILE X SYNDROME; FXS

Fragile X syndrome is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw. In most cases, the disorder is caused by the unstable expansion of a CGG repeat in the FMR1 gene and abnormal methylation, which results in suppression of FMR1 transcription and decreased protein levels in the brain (Devys et al., 1993). ReviewsFragile X syndrome accounts for about one-half of cases of X-linked mental retardation and is the second most common cause of mental impairment after trisomy 21 (OMIM ) (Rousseau et al., 1995).McCabe et al. (1999) summarized the proceedings of a workshop on the fragile X syndrome held in December 1998.Jacquemont et al. (2007) provided a review of fragile X syndrome, which they characterized as a neurodevelopmental disorder, and FXTAS, which they characterized as a neurodegenerative disorder.

FRAGILE X SYNDROME; FXS Is also known as fragile x mental retardation syndrome, mental retardation, x-linked, associated with marxq28, x-linked mental retardation and macroorchidism, marker x syndrome, martin-bell syndrome;fraxa syndrome; fxs; frax syndrome; martin-bell syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Pica
  • Scoliosis


SOURCES: ORPHANET OMIM SCTID ICD10 UMLS

More info about FRAGILE X SYNDROME; FXS

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33

X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 Is also known as ;

Related symptoms:

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


SOURCES: UMLS ORPHANET OMIM MONDO

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as mps iiid, sanfilippo syndrome d, n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

Medium 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

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

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Chronic otitis media Scoliosis Global developmental delay Aggressive behavior Anxiety Attention deficit hyperactivity disorder Behavioral abnormality Recurrent otitis media Strabismus Hyperactivity Coarse facial features Absent speech Long face Gastroesophageal reflux Anteverted nares Hearing impairment Dilatation Pectus excavatum Abnormality of the dentition Frontal bossing Macrocephaly Inguinal hernia Sinusitis Downslanted palpebral fissures Short stature Autosomal dominant inheritance Joint laxity Depressivity Hypertelorism Macrotia Autism Motor delay Ventriculomegaly Hirsutism Wide mouth Splenomegaly Low-set ears Autistic behavior Malabsorption Mandibular prognathia Abnormal facial shape Prominent forehead

Rare Symptoms - Less than 30% cases


Arthritis Delayed skeletal maturation Wide nasal bridge Pes planus Hepatomegaly Short nose Umbilical hernia Joint stiffness Neurological speech impairment Pectus carinatum Horseshoe kidney Sleep disturbance Facial asymmetry Hip dysplasia Synophrys Thin upper lip vermilion X-linked recessive inheritance Dysphagia Short neck Myopia Cataract Microcephaly Diarrhea Chronic diarrhea Narrow face Joint hypermobility Protruding ear Macroorchidism Intellectual disability, moderate Intellectual disability, severe Tics Nevus Cognitive impairment Pica Polyphagia Abnormal form of the vertebral bodies Mitral valve prolapse High, narrow palate Postnatal growth retardation Posteriorly rotated ears Long philtrum Growth delay Shyness Thick vermilion border Hypoplasia of the corpus callosum Oxycephaly Lymphopenia Full cheeks Constipation Recurrent urinary tract infections Autosomal recessive inheritance Recurrent upper respiratory tract infections Lymph node hypoplasia Muscular hypotonia Milia Spastic diplegia Atrial septal defect Feeding difficulties Obesity High forehead Pneumonia Large hands Immunodeficiency Micrognathia Recurrent bacterial infections Depressed nasal bridge Tremor Pointed chin Overgrowth Growth abnormality Progressive hearing impairment Abnormality of the clavicle Dysostosis multiplex Craniofacial hyperostosis Sandal gap Drooling Asymmetric septal hypertrophy Coarse hair Gait disturbance Mucopolysacchariduria Vocal cord paresis Thickened ribs Stereotypy Heparan sulfate excretion in urine Generalized hirsutism Ovoid thoracolumbar vertebrae Anorexia Cellular metachromasia Aortic valve stenosis Sensorineural hearing impairment Dental crowding Intellectual disability, progressive Developmental regression Aspiration Short digit Talipes cavus equinovarus Prominent protruding coccyx Prominent coccyx Broad chin Caesarian section Sleep-wake cycle disturbance Toenail dysplasia Subvalvular aortic stenosis Thickened helices Nasolacrimal duct obstruction Gait imbalance Oral-pharyngeal dysphagia Depressed nasal tip Aplasia cutis congenita Thickened ears Abnormality of the septum pellucidum Hypertrichosis Difficulty walking Thick lower lip vermilion Abnormality of the ribs Thick eyebrow Genu valgum Corneal opacity Psychosis Progressive Broad face Nasal speech Hypertonia Dysarthria Flexion contracture Shallow orbits Bipolar affective disorder Pulmonary arterial hypertension Fatigue Oral cleft Cor pulmonale Pyoderma Short philtrum Prominent nasal bridge Flat occiput Thymoma Abnormality of the lymphatic system Myelopathy Gait ataxia Small for gestational age Agammaglobulinemia Joint hyperflexibility Glossoptosis Myositis Rheumatoid arthritis Sporadic Recurrent cutaneous abscess formation Cellulitis Microphthalmia High palate Epicanthus Enteroviral hepatitis Enteroviral dermatomyositis syndrome Abnormality of the tonsils Prostatitis Epididymitis Abnormality of the genital system Hypospadias Clinodactyly of the 5th finger Patent ductus arteriosus Septic arthritis Hernia Clinodactyly Osteomyelitis Encephalitis Prominent nose Recurrent infections Skin rash Retinopathy Weight loss Dementia Alopecia Rod-cone dystrophy Encephalopathy Neutropenia Thrombocytopenia Hypertension Fever Neoplasm Anemia Myopathy Autoimmunity Sepsis Hypopigmented skin patches Abnormality of skin pigmentation Hypocalcemia Cleft lip Pulmonic stenosis Conjunctivitis Everted lower lip vermilion Telangiectasia Abnormal lung morphology Single transverse palmar crease Tapered finger Meningitis Skin ulcer Hepatitis Recurrent pneumonia Decreased antibody level in blood Delayed gross motor development Postural instability Prominent supraorbital ridges Gingival overgrowth Long nose Slurred speech Syringomyelia Arnold-Chiari type I malformation Long foot High anterior hairline Menstrual irregularities Advanced ossification of carpal bones Progressive macrocephaly Recurrent respiratory infections Microtia Carious teeth Macroglossia Dyskinesia Abnormal vertebral morphology Polycystic ovaries Thickened calvaria Abnormality of the ulna Beaking of vertebral bodies Abnormal cortical bone morphology Large face Vascular skin abnormality Abnormality of amino acid metabolism Anterior beaking of lumbar vertebrae Aspartylglucosaminuria Brachydactyly Upslanted palpebral fissure Severe short stature Conductive hearing impairment Telecanthus Arnold-Chiari malformation Febrile seizures Short palm Tetraparesis Abnormality of the skeletal system Pachygyria Amblyopia Widely spaced teeth Sparse lateral eyebrow Hyperplasia of the maxilla Happy demeanor Pineal cyst Spasticity Babinski sign Abnormal pyramidal sign Tetraplegia Lymphoma Spastic tetraplegia Spastic tetraparesis Malar flattening Autoimmune hemolytic anemia Autoimmune thrombocytopenia Recurrent lower respiratory tract infections Recurrent viral infections Impaired T cell function Hypouricemia Abnormal T cell morphology Autoimmune neutropenia Pure red cell aplasia Brain abscess Recurrent opportunistic infections Cerebral vasculitis Abnormality of B cell physiology Hydrocephalus Abnormality of the eye Short foot Reduced tendon reflexes Cerebellar atrophy Mood swings Irregular dentition Periventricular gray matter heterotopia Abnormal head movements Oppositional defiant disorder Finger joint hypermobility Macroorchidism, postpubertal Increased size of the mandible Encopresis Congenital macroorchidism Severe temper tantrums Folate-dependent fragile site at Xq28 Nystagmus Intrauterine growth retardation Kyphosis Ascending tubular aorta aneurysm Dystonia Congenital onset Cerebellar hypoplasia Proptosis Osteopenia Sparse hair Deeply set eye Bulbous nose Abnormality of eye movement Broad nasal tip Eczema Cerebellar vermis hypoplasia Microretrognathia Sacral dimple Hyperextensibility of the finger joints Large forehead Vesicoureteral reflux Failure of eruption of permanent teeth Decreased testicular size Mitral regurgitation Cone-shaped epiphysis Tarsal synostosis Congenital sensorineural hearing impairment Freckling Synostosis of carpal bones Carpal synostosis Severe failure to thrive Misalignment of teeth Rib fusion Fused cervical vertebrae Delayed ossification of carpal bones Pseudoepiphyses Synostosis of carpals/tarsals Enuresis Premature ovarian insufficiency Hyperkinesis Poor eye contact Broad palm Abnormality of neuronal migration Self-injurious behavior Relative macrocephaly Heterotopia Midface retrusion Hyperpigmentation of the skin X-linked dominant inheritance Spontaneous abortion Round face Neonatal hypotonia Cerebral cortical atrophy Six lumbar vertebrae



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