Motor delay, and Otitis media

Diseases related with Motor delay and Otitis media

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

Top matches:

Severe congenital neutropenia-3 is an autosomal recessive bone marrow failure disorder characterized by low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia. In addition, patients with HAX1 mutations affecting both isoform A and B of the gene develop neurologic abnormalities (summary by Boztug et al., 2010).The Swedish physician Rolf Kostmann (1956) described an autosomal recessive hematologic disorder, termed infantile agranulocytosis, with severe neutropenia with an absolute neutrophil count below 0.5 x 10(9)/l and early onset of severe bacterial infections. The disorder was later termed Kostmann syndrome (Skokowa et al., 2007). Lekstrom-Himes and Gallin (2000) discussed severe congenital neutropenia in a review of immunodeficiencies caused by defects in phagocytes.In addition to Kostmann agranulocytosis, recessively inherited neutropenic syndromes include congenital neutropenia with eosinophilia (OMIM ), Chediak-Higashi syndrome (OMIM ), and Fanconi pancytopenic syndrome (see {227650}).For a phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (OMIM ).

NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 Is also known as agranulocytosis, infantile|kostmann disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3

Skraban-Deardorff syndrome is a 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).

INTELLECTUAL DISABILITY-SEIZURES-ABNORMAL GAIT-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability with seizures, abnormal gait, and distinctive facial features|skraban-deardorff syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SEIZURES-ABNORMAL GAIT-FACIAL DYSMORPHISM SYNDROME

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 pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Other less relevant matches:

Medium match KNIEST DYSPLASIA

Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE

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).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

Medium match ACHONDROPLASIA; ACH

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).

MICROPHTHALMIA, LENZ TYPE Is also known as lenz microphthalmia syndrome|lenz dysplasia|lenz microphthalmia|maa, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA, LENZ TYPE

Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

MELNICK-NEEDLES SYNDROME Is also known as osteodysplasty of melnick and needles|melnick-needles osteodysplasty

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MELNICK-NEEDLES SYNDROME

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

Top 5 symptoms//phenotypes associated to Motor delay and Otitis media

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Recurrent otitis media Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Motor delay and Otitis media. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the skeletal system Delayed speech and language development Scoliosis Short stature Seizures Growth delay Strabismus Depressed nasal bridge Microcephaly Ventriculomegaly Cleft palate Pain Micrognathia Ptosis Pectus excavatum Low-set ears Frontal bossing Widely spaced teeth Hydronephrosis Misalignment of teeth Flared metaphysis Abnormality of the metaphysis Osteoarthritis Hypertelorism Spastic diplegia Atrial septal defect Hyperlordosis Conductive hearing impairment Delayed eruption of teeth Skeletal dysplasia Proptosis Kyphosis Nystagmus High palate Ataxia Cryptorchidism Failure to thrive Constipation Microphthalmia Abnormal facial shape Macrotia Intellectual disability, severe Hypoplasia of the corpus callosum Postnatal growth retardation Abnormal heart morphology

Rare Symptoms - Less than 30% cases

Thin upper lip vermilion Gastroesophageal reflux Deeply set eye Posteriorly rotated ears Aplasia/Hypoplasia of the corpus callosum High, narrow palate Retrognathia Severe short stature Glaucoma Hypertension Depressivity Midface retrusion Malar flattening Short nose Ectopic kidney Bulbous nose Brachydactyly High forehead Gait disturbance Hip dislocation Pyloric stenosis Micromelia Chronic otitis media Intrauterine growth retardation Epicanthus Abnormal palmar dermatoglyphics Macrocephaly Pulmonic stenosis Abnormality of the dentition Pointed chin Vesicoureteral reflux Abnormal cardiac septum morphology Prominent supraorbital ridges Autistic behavior Talipes equinovarus External ear malformation Hypoplastic pelvis Tracheal stenosis Short clavicles Hip contracture Short thorax Prominent forehead Spondyloepiphyseal dysplasia Rhizomelia Tetralogy of Fallot Anxiety Short neck Myopia Broad nasal tip Pneumonia Coloboma Behavioral abnormality Tremor Muscular hypotonia Happy demeanor Flexion contracture Kyphoscoliosis Amblyopia Limited elbow extension Tibial bowing Full cheeks Absent speech Neurological speech impairment Anteverted nares Feeding difficulties Hypospadias Abnormality of cardiovascular system morphology Dilatation Syndactyly Myeloid leukemia Recurrent bacterial infections Leukemia Abnormality of the nervous system Cerebellar atrophy Spasticity Camptodactyly of finger Downslanted palpebral fissures Aganglionic megacolon Recurrent urinary tract infections Iris coloboma Lumbar hyperlordosis Joint hyperflexibility Renal hypoplasia Narrow chest Brain atrophy Tetraparesis Finger syndactyly Lymphoma Oral cleft Cataract Cleft upper lip Respiratory insufficiency Recurrent respiratory infections Ciliary body coloboma Self-injurious behavior Visual impairment Blindness Lumbar kyphosis in infancy Complete duplication of thumb phalanx Long thorax Wide intermamillary distance Agenesis of maxillary lateral incisor Spinal stenosis with reduced interpedicular distance Myelitis Iritis Obstructive lung disease Facial asymmetry Hypopnea Joint contracture of the hand Preauricular skin tag Cervical cord compression Small foramen magnum Pes planus Childhood onset short-limb short stature Brain stem compression Dental crowding Limited hip extension Respiratory tract infection Trident hand Muscle stiffness Clinodactyly Webbed neck Self-mutilation Overfolded helix Clubbing Proximal placement of thumb Abnormality of dental morphology Anophthalmia Abnormality of the pinna Radial deviation of finger Bilateral cryptorchidism Hydroureter Agenesis of permanent teeth Camptodactyly Renal hypoplasia/aplasia Bicuspid aortic valve Abnormality of the clavicle Abnormality of the shoulder Down-sloping shoulders Toe syndactyly Sclerocornea Aggressive behavior Optic nerve coloboma Shield chest Anal atresia Rectal prolapse Autism Pulmonary hypoplasia Microcornea Clinodactyly of the 5th finger Ankyloblepharon Chorioretinal coloboma Low-set, posteriorly rotated ears Abnormal cortical bone morphology Genu valgum Open mouth Bifid scrotum Aplasia/Hypoplasia of the cerebellum Sparse eyebrow Poor suck Abnormality of the genitourinary system Drooling Cutaneous syndactyly Absence seizures Postnatal microcephaly Abnormality of the genital system Sparse scalp hair Rocker bottom foot Fine hair Coarctation of aorta Sloping forehead Dehydration Febrile seizures Focal-onset seizure Esotropia Abdominal distention Tapered finger Everted lower lip vermilion Falls Cupped ear Hallux valgus Short philtrum Prominent nasal tip Pulmonary artery sling Large basal ganglia Abnormal morphology of the hippocampus Abnormal eye morphology Generalized muscle hypertrophy Uplifted earlobe Atypical absence seizures Deep plantar creases Subglottic stenosis Broad eyebrow Esodeviation Supernumerary nipple Broad columella Broad hallux phalanx Large earlobe Bruxism Abnormality of the gastrointestinal tract Chronic constipation Low hanging columella Abnormal eyebrow morphology Pulmonary artery stenosis Drowsiness Submucous cleft hard palate Abnormality of the cerebral white matter Pectus carinatum Short distal phalanx of finger Coarse hair Central sleep apnea Osteolytic defects of the phalanges of the hand Hypoplastic scapulae Cone-shaped epiphyses of the phalanges of the hand Short humerus Atrioventricular canal defect Long fingers Delayed cranial suture closure Thoracic hypoplasia Melanocytic nevus Coxa valga Craniofacial hyperostosis Hoarse voice Wide anterior fontanel Bowing of the long bones Omphalocele Pulmonary arterial hypertension Abnormality of the ribs Oligohydramnios Mitral valve prolapse Growth hormone deficiency Intestinal malrotation Nevus Small face Complete atrioventricular canal defect Abnormality of the kidney Anterior concavity of thoracic vertebrae Telecanthus Mandibular prognathia Cerebral cortical atrophy Agenesis of corpus callosum Patent ductus arteriosus Diarrhea Vomiting Ventricular septal defect Fever Wide nasal bridge Obtuse angle of mandible Sclerosis of skull base Ureteral obstruction Anisospondyly Abnormality of the pubic bone Frontal hirsutism Hypoplastic facial bones Megacystis Urethral atresia Long neck Prune belly Ureteral stenosis Tricuspid valve prolapse Cervical myelopathy Hyperreflexia Neonatal short-limb short stature Joint dislocation Vitreoretinopathy Bell-shaped thorax Glossoptosis Tracheomalacia Arthropathy Chorioretinal atrophy Neonatal respiratory distress Ectopia lentis Coxa vara Abnormality of epiphysis morphology Disproportionate short-trunk short stature High myopia Round face Retinal detachment Platyspondyly Retinopathy Joint stiffness Umbilical hernia Inguinal hernia Respiratory distress Abnormality of B cell physiology Delayed epiphyseal ossification Hypoplastic ilia Brain abscess Narrow mouth Microdontia Delayed myelination Talipes Dilated cardiomyopathy Microtia Blepharophimosis Joint laxity Proteinuria Hypothyroidism Intellectual disability, mild Enlarged joints Cardiomyopathy Abnormal cartilage collagen Flattened, squared-off epiphyses of tubular bones Splayed epiphyses Lumbar kyphoscoliosis Dumbbell-shaped long bone Rhegmatogenous retinal detachment Lens luxation Enlarged thorax Coronal cleft vertebrae Lymph node hypoplasia Cerebral vasculitis Torticollis Thrombocytosis Broad-based gait Wide mouth Coarse facial features Agranulocytosis Tonsillitis Monocytosis Congenital neutropenia Granulocytopenia Acute lymphoblastic leukemia Acute myeloid leukemia Spastic gait Increased antibody level in blood Myelodysplasia Eosinophilia Bone marrow hypocellularity Meningitis Clumsiness Sepsis Neutropenia Hepatosplenomegaly Peripheral neuropathy Pachygyria Delayed ability to walk Recurrent opportunistic infections Recurrent upper respiratory tract infections Abnormal T cell morphology Autoimmune neutropenia Pure red cell aplasia Hypouricemia Impaired T cell function Recurrent viral infections Recurrent lower respiratory tract infections Autoimmune thrombocytopenia Autoimmune hemolytic anemia Spastic tetraparesis Thick upper lip vermilion Lymphopenia Sinusitis Spastic tetraplegia Tetraplegia Abnormal pyramidal sign Babinski sign Immunodeficiency Splenomegaly Hyperplasia of the maxilla Sparse lateral eyebrow Macular degeneration Abnormality of the outer ear Chronic myelogenous leukemia Short toe Abnormality of pelvic girdle bone morphology Tinnitus Disproportionate short-limb short stature Short long bone Infantile muscular hypotonia Sleep apnea Acanthosis nigricans Paraparesis Clonus Abnormal lung morphology Back pain Abnormal form of the vertebral bodies Epidermal acanthosis Overgrowth Sleep disturbance Confusion Scarring Apnea Cleft lip Rigidity Arthralgia Genu varum Epiphyseal dysplasia Obesity Upper airway obstruction Thoracolumbar kyphosis Recurrent ear infections Myelopathy Hypoxemia Multiple epiphyseal dysplasia Cor pulmonale Abnormality of femur morphology Central apnea Dysuria Communicating hydrocephalus Short femoral neck Generalized joint laxity Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Neuroblastoma Disproportionate short stature Bowel incontinence Weight loss Hydrocephalus Scrotal hypoplasia Cerebellar hypoplasia Hirsutism Joint hypermobility Long face Abnormality of eye movement Synophrys Attention deficit hyperactivity disorder Sparse hair Protruding ear Osteopenia Long philtrum Eczema Dystonia Dysphagia Multiple bladder diverticula Neonatal asphyxia Epicanthus inversus Patellar hypoplasia Hypoplasia of teeth Congenital hypothyroidism Prominent occiput Heart murmur Hip dysplasia Cerebellar vermis hypoplasia Anemia Short digit Neoplasm Abnormality of the septum pellucidum Talipes cavus equinovarus Prominent protruding coccyx Broad chin Thickened ears Prominent coccyx Caesarian section Sleep-wake cycle disturbance Toenail dysplasia Microretrognathia Nasolacrimal duct obstruction Thickened helices Gait imbalance Depressed nasal tip Aplasia cutis congenita Flat occiput Oral-pharyngeal dysphagia Delayed gross motor development Sacral dimple Reduced tendon reflexes Aplasia/Hypoplasia of the cerebral white matter


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