Hydrocephalus, and Otitis media

Diseases related with Hydrocephalus and Otitis media

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

Top matches:

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms).

PRIMARY CILIARY DYSKINESIA Is also known as ics|polynesian bronchiectasis|ciliary dyskinesia, primary, 1, with or without situs inversus|pcd|immotile cilia syndrome

Related symptoms:

  • Hearing impairment
  • Ventriculomegaly
  • Respiratory distress
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY CILIARY DYSKINESIA

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:

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


SOURCES: OMIM MENDELIAN

More info about LUSCAN-LUMISH SYNDROME; LLS

Medium match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Other less relevant matches:

Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia (see this term).

LIGNEOUS CONJUNCTIVITIS Is also known as conjunctivitis lignosa

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Macrocephaly
  • Hydrocephalus
  • Blindness


SOURCES: ORPHANET MENDELIAN

More info about LIGNEOUS CONJUNCTIVITIS

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 ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Medium match PFEIFFER SYNDROME

Pfeiffer syndrome is an autosomal dominant craniosynostosis syndrome with characteristic anomalies of the hands and feet. Three clinical subtypes, which have important diagnostic and prognostic implications, have been identified. Type 1, the classic syndrome, is compatible with life and consists of craniosynostosis, midface deficiency, broad thumbs, broad great toes, brachydactyly, and variable syndactyly. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet, together with ankylosis of the elbows. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe, and the anterior cranial base is markedly short. Various visceral malformations have been found in association with type 3. Early demise is characteristic of types 2 and 3 (Cohen, 1993). Cohen and Barone (1994) further tabulated the findings in the 3 types of Pfeiffer syndrome.

PFEIFFER SYNDROME Is also known as acrocephalosyndactyly, type v|noack syndrome|acs5|acs v

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about PFEIFFER SYNDROME

Medium match HYPOPLASMINOGENEMIA

Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.

HYPOPLASMINOGENEMIA Is also known as plasminogen deficiency type 1

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hyperreflexia
  • Macrocephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOPLASMINOGENEMIA

Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.

AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS Is also known as infantile malignant osteopetrosis|osteopetrosis, infantile malignant 2

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

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

Symptoms // Phenotype % cases
Macrocephaly Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Depressed nasal bridge Recurrent otitis media High forehead Mandibular prognathia Recurrent upper respiratory tract infections Pulmonary arterial hypertension Communicating hydrocephalus Malar flattening Acanthosis nigricans Ventriculomegaly Hyperreflexia Recurrent pneumonia Generalized hypotonia Chronic otitis media Craniosynostosis Midface retrusion Kyphosis Pneumonia Sinusitis Anteverted nares Recurrent respiratory infections Low-set ears Conductive hearing impairment Frontal bossing

Rare Symptoms - Less than 30% cases

Hypertelorism Blindness Micrognathia Hepatomegaly Lumbar hyperlordosis Micromelia Umbilical hernia Epidermal acanthosis Protruding tongue Anemia Rhizomelia Short nose Sepsis Cerebellar hypoplasia Mesomelia Macroglossia Abnormality of vision Papule Poor wound healing Hepatosplenomegaly Hypoplasia of the corpus callosum Vaginitis Cervicitis Chronic irritative conjunctivitis Abnormality of fontanelles Abnormality of the mediastinum Abnormality of the gallbladder Gastrointestinal inflammation Duodenal ulcer Keratoconjunctivitis Recurrent pharyngitis Dandy-Walker malformation Stomatitis Abnormality of the larynx Optic atrophy Recurrent bronchitis Periodontitis Gingivitis Premature loss of teeth Epiphora Nephritis Conjunctivitis Gingival overgrowth Nephrolithiasis Cloverleaf skull Severe short stature Respiratory failure Bowing of the long bones Prominent forehead Obesity Abnormality of the ribs Dilatation Abnormality of the metaphysis Downslanted palpebral fissures Failure to thrive Dental crowding Aggressive behavior Chronic rhinitis Chronic bronchitis Bronchitis Bronchiectasis Respiratory tract infection Recurrent infections Proptosis Hyperactivity Behavioral abnormality Narrow chest Abnormality of the skeletal system Abnormality of metabolism/homeostasis Brachydactyly Apnea Joint stiffness Arnold-Chiari malformation Atresia of the external auditory canal Choanal stenosis Coronal craniosynostosis Shallow orbits Ankylosis Natal tooth Visual loss Broad hallux Preaxial polydactyly Choanal atresia Short thumb Broad thumb Oxycephaly Hoarse voice Convex nasal ridge Hypoplasia of the maxilla Wide nose Toe syndactyly Finger syndactyly Tremor Abnormality of the skin Broad forehead Asthma Tracheal stenosis Abnormality of the fallopian tube Venous thrombosis Abnormality of the ovary Reduced factor XII activity Geographic tongue Shortening of all middle phalanges of the fingers Broad phalanx Decreased level of plasminogen Pneumomediastinum Elbow ankylosis Brachyturricephaly Short middle phalanx of toe Abnormality of the middle ear Growth delay Anterior plagiocephaly Nystagmus Visual impairment Cartilaginous trachea Scarring Craniofacial dysostosis Abnormality of the respiratory system Abnormality of the ear Long hallux Bronchomalacia Humeroradial synostosis Bicoronal synostosis Abnormality of the eye Bruising susceptibility Splenomegaly Pericardial effusion Beaking of vertebral bodies Edema of the lower limbs Abnormality of the skull Insomnia Protuberant abdomen Distal arthrogryposis Heart murmur Thoracolumbar kyphosis Increased intracranial pressure Tachypnea Progressive hearing impairment Thickened skin Abnormality of the face Mitral regurgitation Mitral valve prolapse Increased mean corpuscular volume Inspiratory stridor Cyanosis Short digit Localized skin lesion Dysplastic aortic valve Focal seizures, afebril Intervertebral space narrowing Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Anisopoikilocytosis Hypochromic anemia Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Morphological abnormality of the central nervous system Obstructive lung disease J-shaped sella turcica Abnormality of the optic disc Hyperplasia of the maxilla Abnormality of the cardiovascular system Limitation of joint mobility Facial palsy Abnormality of epiphysis morphology Reduced bone mineral density Cranial nerve paralysis Hypocalcemia Bone marrow hypocellularity Increased bone mineral density Bone pain Pancytopenia Reticulocytosis Abnormal blistering of the skin Recurrent fractures Delayed eruption of teeth Syndactyly Lymphadenopathy Abnormality of movement Pallor Hypophosphatemia Abnormality of visual evoked potentials Ascites Edema Tachycardia Postnatal growth retardation Developmental regression Coarse facial features Kyphoscoliosis Dyspnea Inguinal hernia Short neck Pulmonary artery stenosis Opsoclonus Optic nerve compression Abnormal pulmonary valve morphology Abnormality of temperature regulation Abnormality of hair texture Premature loss of primary teeth Osteopetrosis Polydactyly Fibular bowing Abnormality of the dentition Menstrual irregularities Long face Hirsutism Overgrowth Pointed chin Polycystic ovaries Slurred speech Large hands Polyphagia Long nose Syringomyelia Arnold-Chiari type I malformation High anterior hairline Long foot Shyness Attention deficit hyperactivity disorder Advanced ossification of carpal bones Progressive macrocephaly Abnormal facial shape Cryptorchidism Epicanthus Diarrhea Immunodeficiency Hypospadias Malabsorption Flat face Neurodegeneration Decreased antibody level in blood Lymphopenia Malnutrition Generalized tonic-clonic seizures Autistic behavior Shawl scrotum Chronic sinusitis Respiratory distress Headache Rod-cone dystrophy Cough Infertility Dyskinesia Abnormal lung morphology Situs inversus totalis Anosmia Neonatal respiratory distress Dextrocardia Ciliary dyskinesia Male infertility Recurrent sinusitis Polysplenia Anxiety Asplenia Duodenal atresia Nasal obstruction Abdominal situs inversus Abnormal cornea morphology Nasal polyposis Immotile cilia Absent frontal sinuses Crackles Abnormal respiratory motile cilium morphology Delayed speech and language development Atrial septal defect Absent speech Autism Combined immunodeficiency Agammaglobulinemia High palate Limited elbow extension Joint hyperflexibility Short palm Sudden cardiac death Dental malocclusion Limb undergrowth Abnormal form of the vertebral bodies Clonus Wormian bones Disproportionate short-limb short stature Short long bone Genu varum Abnormality of pelvic girdle bone morphology Elbow dislocation Flared metaphysis Disproportionate short stature Hyperlordosis Spinal canal stenosis Obstructive sleep apnea Abnormality of the elbow Large forehead Diaphyseal thickening Neonatal short-limb short stature Long thorax Aplasia/hypoplasia of the extremities Narrow sacroiliac notch Childhood onset short-limb short stature Abnormality of the ilium Acromelia Scoliosis Strabismus Neurological speech impairment Hyperhidrosis Cellular immunodeficiency High myopia Abnormality of chromosome stability Decrease in T cell count Abnormality of neutrophils Impaired T cell function Hypercoagulability Microcephaly Intellectual disability, severe Congestive heart failure Gastroesophageal reflux Skeletal dysplasia Severe global developmental delay Platyspondyly Brain atrophy Generalized-onset seizure Exotropia Intrauterine growth retardation Wide anterior fontanel Sleep apnea Redundant skin Thoracic hypoplasia Femoral bowing Tibial bowing Abnormality of the clavicle Megalencephaly Central apnea Metaphyseal chondrodysplasia Aplasia/Hypoplasia of the mandible Enlarged cerebellum Muscular hypotonia Dysarthria Abnormality of nasopharyngeal adenoids


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