Microphthalmia, and Meningitis

Diseases related with Microphthalmia and Meningitis

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

Top matches:

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Other less relevant matches:

Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME Is also known as smd-crd

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.

FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME Is also known as alx1-related frontonasal dysplasia|frontonasal dysplasia type 3

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME

Low match NEVUS OF ITO

Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome (see this term), the latter differs from SSS by its normal intelligence and skeletal features.

SANJAD-SAKATI SYNDROME Is also known as richardson-kirk syndrome|hrd syndrome|sanjad-sakati syndrome|hypoparathyroidism-intellectual disability-dysmorphism syndrome|hypoparathyroidism, congenital, associated with dysmorphism, growth retardation, and developmental delay|sss|hypoparathyroidism wi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SANJAD-SAKATI SYNDROME

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

Top 5 symptoms//phenotypes associated to Microphthalmia and Meningitis

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

Other less frequent symptoms

Patients with Microphthalmia and Meningitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Cataract Microcephaly Failure to thrive Abnormal facial shape Cleft palate Generalized hypotonia Visual impairment Posteriorly rotated ears Abnormal heart morphology Alopecia Retinal detachment Hearing impairment Talipes Supernumerary nipple Joint laxity Abnormality of the dentition Depressed nasal bridge Micrognathia Low-set ears Hypoplasia of the corpus callosum Muscular hypotonia Scoliosis Brachydactyly Postnatal growth retardation Hydrocephalus Intrauterine growth retardation Talipes equinovarus

Rare Symptoms - Less than 30% cases

Congestive heart failure Hypertelorism Retinal vascular proliferation Retinal hemorrhage Spasticity Supernumerary ribs Optic nerve coloboma Camptodactyly of finger Keratitis Erythema Eosinophilia Abnormality of dental enamel Blue sclerae Abnormal blistering of the skin Hypodontia Delayed eruption of teeth Abnormality of skin pigmentation Cerebral cortical atrophy Hyperkeratosis Corneal opacity Skin rash Microtia Motor delay Rhizomelia Abnormality of the vasculature Macular degeneration Visual loss Progressive visual loss Severe short stature Coloboma Proteinuria Astigmatism Short palm Myopia Nystagmus Recurrent otitis media Hyperextensible skin Lymphedema Amblyopia Wide nasal bridge Narrow mouth Fever Frontal bossing Delayed skeletal maturation Prominent forehead Brachycephaly Glaucoma Kyphoscoliosis Ptosis Absent hand Low-set, posteriorly rotated ears Short metacarpal Microdontia Intellectual disability, mild Epicanthus Cryptorchidism Uveitis Atrial septal defect Thin upper lip vermilion Delayed myelination Abnormality of the kidney Ventriculomegaly Ventricular septal defect Hypoplastic fingernail Tetralogy of Fallot Nail dysplasia Sparse hair Pulmonary arterial hypertension Abnormal cardiac septum morphology Esotropia Hypertension Pulmonic stenosis Cognitive impairment Bicuspid aortic valve Osteopenia Finger syndactyly Iris hypopigmentation Peripheral visual field loss Thoracic scoliosis Retinal atrophy Beaking of vertebral bodies Ovoid vertebral bodies Ectopia pupillae Enlarged joints Macular atrophy Spondylometaphyseal dysplasia Metaphyseal cupping Cone dysfunction syndrome Limited elbow movement Abnormality of macular pigmentation Long philtrum Scrotal hypoplasia Abnormality of the outer ear Cleft lip Bulbous nose Conductive hearing impairment Torticollis Agenesis of corpus callosum Widely spaced teeth Hypoplastic inferior ilia Decreased hip abduction Tibial torsion Large central visual field defect High hypermetropia Cupped ribs Severe platyspondyly Retinal thinning Narrow greater sacrosciatic notches Disproportionate short stature Flared metaphysis Short finger Morning glory anomaly Joint stiffness Hyperlordosis Photophobia Neonatal asphyxia Ureterovesical junction obstruction Recurrent pyelonephritis Macular hyperpigmentation Orbital cyst Renal malrotation Abnormal palmar dermatoglyphics Scleral staphyloma Optic nerve dysplasia Mild proteinuria Bilateral renal hypoplasia Lens luxation Platybasia Pyelonephritis Ureteropelvic junction obstruction High-frequency hearing impairment Nyctalopia Epicanthus inversus Tibial bowing Bowing of the long bones Femoral bowing Abnormality of color vision Hypoplasia of the maxilla Bowing of the legs Metaphyseal irregularity Metaphyseal widening Cone/cone-rod dystrophy Coxa vara Heart murmur Platyspondyly Abnormality of the ribs Limb undergrowth Waddling gait Prominent occiput Dental malocclusion Congenital hypothyroidism Retinal dystrophy Hypoplasia of teeth Patellar hypoplasia Dilated cardiomyopathy Sparse eyelashes Underdeveloped nasal alae Recurrent bacterial infections Bifid uvula Growth hormone deficiency Convex nasal ridge Hypoplasia of penis Hypocalcemia Pustule Hypoplastic nipples Hyperostosis Coarse hair Short foot Hemivertebrae Increased bone mineral density Hyperpigmentation of the skin Intestinal obstruction Fine hair Ectodermal dysplasia Spinal canal stenosis Nevus Hypoplasia of the fovea Anodontia Hypopigmentation of the skin Generalized osteosclerosis Recurrent respiratory infections Atrophic, patchy alopecia Hyperpigmented streaks Nail pits Hypohidrotic ectodermal dysplasia Scarring alopecia of scalp Breast aplasia Breast hypoplasia Hypogonadism Small hand Micropenis High forehead Thick nail Deeply set eye Ridged nail Muscular hypotonia of the trunk Small for gestational age Conical tooth Thin vermilion border Tetraplegia Malabsorption Preauricular skin tag Cardiomyopathy Cranium bifidum occultum Prominent glabella Caudal appendage Upper eyelid coloboma Wide nasal base Bifid nose Widow's peak Delayed speech and language development Eyelid coloboma Lipoma of corpus callosum Intellectual disability, severe Facial cleft Hypothyroidism Absent eyebrow Blepharophimosis Sparse eyebrow Myopathy Finger clinodactyly Recurrent pneumonia Feeding difficulties Patchy osteosclerosis External ear malformation Optic atrophy Nail dystrophy Papule Scarring Pallor Recurrent infections Immunodeficiency Severe intrauterine growth retardation Hypoparathyroidism Neoplasm Congenital hypoparathyroidism Aplasia/Hypoplasia of the frontal sinuses Pectoral muscle hypoplasia/aplasia Hyperphosphatemia Decreased circulating cortisol level Tetany Aplasia/Hypoplasia affecting the eye Cellular immunodeficiency Hypoplasia of the frontal bone Hypocalcemic seizures Retinal coloboma Knee dislocation Hydrocele testis Periventricular cysts Attention deficit hyperactivity disorder Umbilical hernia Hyperhidrosis Gait disturbance Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Acrania Imperforate hymen Cutis marmorata telangiectatica congenita Skin ulcer Absent toe Abnormal pulmonary valve morphology Venous malformation Absent fingernail Aplastic/hypoplastic toenail Chylothorax Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Oral cleft Abnormality of the hair Esophageal varix Hearing abnormality Ridged fingernail Abnormal chorioretinal morphology Asymmetric growth Deviation of finger Cerebral ischemia Verrucae Dystrophic toenail Abnormal toenail morphology Irregular hyperpigmentation Abnormality of the nail Abnormality of immune system physiology Telangiectasia of the skin Hemiplegia/hemiparesis Abnormality of dental morphology Encephalitis Hypopigmented skin patches Spina bifida occulta Osteolysis Abnormality of the fingernails Congenital hepatic fibrosis Abnormality of the upper limb Broad nail Leukemia Gastrointestinal hemorrhage Premature birth Ascites Short distal phalanx of finger Polymicrogyria Cirrhosis Cleft upper lip Toe syndactyly Prominent nasal bridge Small nail EEG abnormality Cerebellar hypoplasia Patent ductus arteriosus Thrombocytopenia Abnormality of cardiovascular system morphology Dilatation Syndactyly Hypertonia Abnormality of the skeletal system Coarctation of aorta Hemiparesis Pulmonary artery atresia Aplasia/Hypoplasia of the skin Abnormality of the lower limb Arteriovenous malformation Calvarial skull defect Double outlet right ventricle Pulmonary artery stenosis Central hypotonia Oligodactyly Aplasia cutis congenita Cutaneous finger syndactyly Cortical dysplasia Split hand Hypoplastic left heart Cutis marmorata Portal hypertension Abnormality of the metacarpal bones Leukopenia Aortic valve stenosis Telangiectasia Pachygyria Encephalocele Abnormal hand morphology Flexion contracture Elevated serum creatinine Accessory carpal bones Edema Sensorineural hearing impairment Bilateral elbow dislocations Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Spatulate thumbs Prominent antitragus Enlarged metaphyses Hypertropia Reduced visual acuity Shoulder dislocation Multiple joint dislocation Talipes equinovalgus Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Deep palmar crease Small face Generalized osteoporosis Renal insufficiency Hydronephrosis Overlapping fingers Multicystic kidney dysplasia Multiple renal cysts Soft skin Arnold-Chiari type I malformation Severe vision loss Chorioretinal atrophy Visual field defect Nephritis Chronic kidney disease Abnormality of the genitourinary system Horseshoe kidney Joint hyperflexibility Nephrolithiasis Renal dysplasia Abnormality of the genital system Renal hypoplasia Vesicoureteral reflux Gliosis Nephropathy Stage 5 chronic kidney disease Confusion 11 pairs of ribs Abnormally large globe Downslanted palpebral fissures Hip dislocation Recurrent fractures Thick eyebrow Flat face Arachnodactyly Genu valgum Abnormality of the foot Narrow chest Hypermetropia Pectus carinatum Mitral valve prolapse Pes planus Proptosis Osteoporosis Inguinal hernia Hernia Midface retrusion Respiratory distress Short neck Anteverted nares Webbed neck Congenital diaphragmatic hernia Upper limb undergrowth Patent foramen ovale Aortic root aneurysm Narrow nasal bridge Restrictive ventilatory defect Congenital glaucoma Thoracic hypoplasia Bilateral talipes equinovarus Metatarsus adductus Spondyloepiphyseal dysplasia Radioulnar synostosis Cutis laxa Cardiomegaly Sandal gap Accelerated skeletal maturation Microretrognathia Joint dislocation Elbow flexion contracture Left ventricular hypertrophy Abnormal lung morphology Mitral regurgitation Low posterior hairline Multiple bladder diverticula


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