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:
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
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
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:
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
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
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
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
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
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
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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