Microcephaly, and Otitis media

Diseases related with Microcephaly and Otitis media

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

Top matches:

Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (OMIM ) and CDG2A (OMIM ).The neutrophil defect in CDG2C has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), which is a manifestation of the disorder; there are no cases of 'primary' LAD II (Frydman, 1996).Etzioni and Harlan (1999) provided a comprehensive review of both LAD1 (OMIM ) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C Is also known as cdgiic|rhs|lad2|cdg iic|rambam-hasharon syndrome|leukocyte adhesion deficiency, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C

MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

Medium match RIDDLE SYNDROME

A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).

RIDDLE SYNDROME Is also known as rnf168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RIDDLE SYNDROME

Other less relevant matches:

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

Medium match HYDRANENCEPHALY

Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981).For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDRANENCEPHALY

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

Medium match BLOOM SYNDROME

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

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

17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

17Q23.1Q23.2 MICRODELETION SYNDROME Is also known as 17q23.1-q23.2 microdeletion syndrome|del(17)(q23.1q23.2)|monosomy 17q23.1q23.2|monosomy 17q23.1-q23.2

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q23.1Q23.2 MICRODELETION SYNDROME

Medium match KBG SYNDROME

KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.

KBG SYNDROME Is also known as short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome|macrodontia, mental retardation, characteristic facies, short stature, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about KBG SYNDROME

Top 5 symptoms//phenotypes associated to Microcephaly and Otitis media

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Protruding ear Abnormal facial shape Hearing impairment Brachydactyly Strabismus Growth delay Kyphosis Intrauterine growth retardation Postnatal growth retardation Intellectual disability, mild Delayed speech and language development Recurrent otitis media Thin upper lip vermilion Scoliosis Severe short stature Hypertelorism Anxiety Bulbous nose Depressed nasal bridge Gastroesophageal reflux Feeding difficulties Atrial septal defect Broad nasal tip Narrow mouth Epicanthus Diarrhea Attention deficit hyperactivity disorder Autistic behavior Constipation Cryptorchidism High palate Pneumonia Abnormality of the dentition Mild global developmental delay Sacral dimple Intellectual disability, severe Autism

Rare Symptoms - Less than 30% cases

Talipes equinovarus Pulmonary arterial hypertension Syndactyly Behavioral abnormality Delayed skeletal maturation Cleft palate Flat occiput Frontal bossing Aggressive behavior Skeletal dysplasia Clinodactyly of the 5th finger Neonatal asphyxia IgM deficiency IgG deficiency IgA deficiency Pulmonary fibrosis Chronic otitis media Highly arched eyebrow Hirsutism Widely spaced teeth Low-set ears Specific learning disability Cardiomyopathy Abnormal heart morphology Micrognathia Long philtrum Short neck Anteverted nares Macrotia Pectus excavatum Depressed nasal tip Synophrys Patellar hypoplasia Hip dysplasia Failure to thrive Long palpebral fissure Malar flattening Long eyelashes Telangiectasia Hypoplasia of the corpus callosum Obsessive-compulsive behavior Prominent nasal bridge Hyperactivity Ataxia Neoplasm Ptosis Immunodeficiency Severe global developmental delay Myopia Abnormality of the skeletal system Pointed chin Hypertrichosis Recurrent infections Joint hypermobility Long face Midface retrusion Microtia Posteriorly rotated ears Telecanthus Respiratory failure Muscular hypotonia Craniosynostosis Pes planus Erythema Blepharophimosis Dystonia Mixed hearing impairment Thoracic kyphosis Megalocornea Vertebral fusion Cerebellar atrophy Beaking of vertebral bodies Chronic constipation Abnormality of the hand Short femoral neck Radial deviation of finger Short long bone Sparse hair Deeply set eye Osteopenia Broad face Proptosis Prominent forehead Cerebellar hypoplasia Smooth philtrum Nystagmus Ventriculomegaly Telangiectasia of the skin Chromosome breakage Hypoplasia of the zygomatic bone Acute leukemia Hodgkin lymphoma Acute myeloid leukemia Myeloid leukemia High pitched voice Widely-spaced maxillary central incisors Squamous cell carcinoma Hand polydactyly Reduced number of teeth Hypopigmented skin patches Azoospermia Narrow face Hypoplastic pelvis Cervical ribs Dysphagia Spotty hyperpigmentation Tremor Downslanted palpebral fissures Rib fusion Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hypopigmentation Macrodontia Female infertility Recurrent ear infections Decreased fertility in females Abnormality of chromosome stability Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Oligodontia Microretrognathia Abnormality of eye movement Blepharitis Underdeveloped nasal alae Limitation of joint mobility Esotropia Cafe-au-lait spot Short metacarpal Abnormality of epiphysis morphology Bilateral single transverse palmar creases Sandal gap Bicuspid aortic valve Congenital contracture Long fingers Slender finger Shawl scrotum Round face Bifid nose Arachnodactyly Moderate global developmental delay Triangular face Long toe Shallow acetabular fossae Retinopathy of prematurity Coxa magna Chalazion Single transverse palmar crease Ventricular septal defect Abnormality of cardiovascular system morphology Clinodactyly Thick eyebrow Brachycephaly Intellectual disability, moderate Low posterior hairline Small for gestational age High, narrow palate Short digit Eczema Cerebellar vermis hypoplasia Neurological speech impairment Reduced tendon reflexes Delayed gross motor development Prominent supraorbital ridges Oral-pharyngeal dysphagia Low anterior hairline Spastic diplegia Aplasia cutis congenita Gait imbalance Thickened helices Nasolacrimal duct obstruction Toenail dysplasia Sleep-wake cycle disturbance Retinopathy Caesarian section Prominent coccyx Thickened ears Broad chin Prominent protruding coccyx Talipes cavus equinovarus Abnormality of the septum pellucidum Hypertension Hyperreflexia Abnormal vertebral morphology Patent ductus arteriosus Dyspnea Hypoplasia of dental enamel Abnormal cardiac septum morphology Sinusitis Microphthalmia Bronchiectasis Poor hand-eye coordination Interstitial pulmonary abnormality Bronchitis Recurrent sinusitis Episodic fever Chronic sinusitis Recurrent viral infections Demyelinating peripheral neuropathy Conjunctival telangiectasia Generalized lymphadenopathy Elevated alpha-fetoprotein Enuresis nocturna Intraventricular hemorrhage Increased sensitivity to ionizing radiation Chromosomal breakage induced by ionizing radiation Hydrocephalus Emotional lability Congestive heart failure Platyspondyly Micromelia Brain atrophy Generalized-onset seizure High myopia Lumbar hyperlordosis Epidermal acanthosis Rhizomelia Exotropia Wide anterior fontanel Acanthosis nigricans Sleep apnea Redundant skin Restrictive ventilatory defect Scaling skin Mesomelia Reduction of neutrophil motility Abnormality of metabolism/homeostasis Cerebral cortical atrophy Coarse facial features Short foot Febrile seizures Intellectual disability, progressive Leukocytosis Cellulitis Periodontitis Echolalia Widow's peak Bronchiolitis Neutrophilia Abnormality of the integument Flexion contracture Recurrent pneumonia Abdominal pain Clumsiness Abnormal lung morphology Dry skin Abnormality of the cerebral white matter Arthritis Weight loss Headache Upslanted palpebral fissure Gait disturbance Tall chin Microtia, first degree Hyperventilation Toe walking Hoarse voice Thoracic hypoplasia Femoral bowing Abnormality of the face Recurrent respiratory infections Amblyopia Macular degeneration Torticollis Abnormality of the outer ear Scrotal hypoplasia Heart murmur Prominent occiput Congenital hypothyroidism Hypoplasia of teeth Epicanthus inversus Abnormal palmar dermatoglyphics Multiple bladder diverticula Anemia Short nose Hyperhidrosis Delayed myelination Diabetes mellitus Polydactyly Skin rash Finger syndactyly Leukemia Dolichocephaly Infertility Ichthyosis Lymphoma Decreased antibody level in blood Prominent nose Abnormality of the skin Type II diabetes mellitus Cutaneous photosensitivity Microdontia Talipes Tibial bowing Cupped ear Abnormality of the clavicle Megalencephaly Central apnea Cloverleaf skull Metaphyseal chondrodysplasia Fibular bowing Aplasia/Hypoplasia of the mandible Enlarged cerebellum Feeding difficulties in infancy Pulmonic stenosis Hypodontia Dental malocclusion Coarctation of aorta Decreased body weight Atrioventricular canal defect Dilated cardiomyopathy Prominent fingertip pads Joint laxity Proteinuria Hypothyroidism Motor delay Eversion of lateral third of lower eyelids Abnormality of the breast Long hallux Natal tooth Sparse lateral eyebrow Generalized joint laxity Short 5th finger Short columella Neonatal hypoglycemia Central hypotonia Vertebral arch anomaly


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