Microcephaly, and Corneal dystrophy

Diseases related with Microcephaly and Corneal dystrophy

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

Top matches:

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.

STURGE-WEBER SYNDROME Is also known as sws|sturge-weber-dimitri syndrome|sturge-weber-krabbe angiomatosis|encephalofacial angiomatosis|sturge-weber-krabbe syndrome|encephalotrigeminal angiomatosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Strabismus
  • Hyperreflexia
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about STURGE-WEBER SYNDROME

Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.

X-LINKED COLOBOMATOUS MICROPHTHALMIA-MICROCEPHALY-INTELLECTUAL DISABILITY-SHORT STATURE SYNDROME Is also known as maine microphthalmos|colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation|x-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED COLOBOMATOUS MICROPHTHALMIA-MICROCEPHALY-INTELLECTUAL DISABILITY-SHORT STATURE SYNDROME

Other less relevant matches:

Dystonia-28 is an autosomal dominant neurologic disorder characterized by onset of progressive dystonia in the first decade of life. Dystonia typically begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. The severity is variable, and some patients may become wheelchair-bound. Many patients also have an elongated face with bulbous nose, and some have abnormal eye movements. About half of patients show delayed motor and/or cognitive development with mild intellectual disability (summary by Zech et al., 2016 and Meyer et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DYSTONIA 28, CHILDHOOD-ONSET; DYT28

Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.

XERODERMA PIGMENTOSUM VARIANT Is also known as xeroderma pigmentosum with normal dna repair rates|photosensitivity with defective dna synthesis|xpv

Related symptoms:

  • Microcephaly
  • Growth delay
  • Photophobia
  • Dry skin
  • Hypopigmentation of the skin


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about XERODERMA PIGMENTOSUM VARIANT

Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014).For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Nystagmus
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE; TTD6

HOLOPROSENCEPHALY 3; HPE3 Is also known as hlp3

Related symptoms:

  • Microcephaly
  • Strabismus
  • Ptosis
  • Depressed nasal bridge
  • Malar flattening


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 3; HPE3

Low match HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Top 5 symptoms//phenotypes associated to Microcephaly and Corneal dystrophy

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

Other less frequent symptoms

Patients with Microcephaly and Corneal dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Microcornea Pes cavus Cognitive impairment Seizures Nystagmus Microphthalmia Abnormality of eye movement Retinopathy Delayed speech and language development Dry skin Motor delay Hydrocephalus Macrocephaly Astigmatism

Rare Symptoms - Less than 30% cases

Neurodegeneration Progressive neurologic deterioration Corneal opacity Aortic regurgitation Elbow flexion contracture Split hand Recurrent otitis media Hypertrichosis Delayed eruption of teeth Long philtrum Optic disc pallor Dolichocephaly Asthma Macroglossia Micrognathia Intellectual disability, profound Sleep apnea Widely spaced teeth Depressed nasal bridge Esotropia Coloboma Kyphoscoliosis Exotropia Toe walking Mild microcephaly Dermatan sulfate excretion in urine Coxa valga Apnea Heparan sulfate excretion in urine Retinal fold Myelopathy Dysostosis multiplex Obstructive sleep apnea Abnormal heart valve morphology Urinary glycosaminoglycan excretion Proptosis Hepatosplenomegaly Cardiomyopathy Abnormality of the eye Umbilical hernia Gingival overgrowth Glaucoma Pallor Behavioral abnormality Stroke Long eyelashes Hearing impairment Flexion contracture Visual impairment Hepatomegaly Short neck Attention deficit hyperactivity disorder Diarrhea Coarse facial features Congestive heart failure Optic atrophy Severe short stature Kyphosis Osteopenia Inguinal hernia Splenomegaly Limitation of joint mobility Thoracic scoliosis Rhinitis Spinal canal stenosis Arthropathy Flared iliac wings Protruding tongue Short clavicles Hypoplasia of the odontoid process Full cheeks Palpebral edema Protuberant abdomen Thickened calvaria Everted lower lip vermilion Peripheral visual field loss Abnormality of the elbow Cor pulmonale Tracheal stenosis Hypoplastic ilia Upper airway obstruction Communicating hydrocephalus Angina pectoris Large earlobe Beaking of vertebral bodies Conical tooth Shallow orbits Diastasis recti Sleep disturbance Gingivitis Abnormality of the clavicle Broad nasal tip Abnormality of the skull Recurrent lower respiratory tract infections Abnormality of the respiratory system Metatarsus adductus Restrictive ventilatory defect Foam cells Left ventricular hypertrophy Chronic diarrhea Prominent supraorbital ridges Recurrent upper respiratory tract infections Increased intracranial pressure Hyperammonemia Progressive hearing impairment Coxa vara Decreased body weight Opacification of the corneal stroma Abnormality of dental enamel Spastic paraparesis Generalized hirsutism Abnormal vertebral morphology Thickened skin Abnormality of epiphysis morphology Back pain Encephalocele Abnormality of the skin Abnormality of the ribs Coronary artery atherosclerosis Flared metaphysis Multiple joint contractures Hip dysplasia Progressive visual loss Microdontia Abnormality of the cardiovascular system Cardiomegaly Abnormal form of the vertebral bodies Lumbar hyperlordosis Interphalangeal joint contracture of finger Heart murmur Stridor Language impairment Myocardial infarction Mitral regurgitation Hemiplegia Cerebral palsy Hip subluxation Pulmonary edema Flaring of rib cage Proximal tapering of metacarpals Enlarged vertebral pedicles Deformed humerus Thick skull base Delayed tarsal ossification Abnormality of joint mobility Broad ischia Abnormality of lysosomal metabolism Broad long bone diaphyses Mandibular condyle hypoplasia Cervical subluxation Hypoplastic cervical vertebrae Enlarged tonsils C1-C2 subluxation Abnormality of the tonsils Calcification of falx cerebri Hypoplasia of the femoral head Bullet-shaped phalanges of the hand Abnormality of the wing of the ilium Abnormality of mucopolysaccharide metabolism Downslanted palpebral fissures Congenital microcephaly Hypoplasia of the pons Abnormality of visual evoked potentials Amblyopia Frequent falls Low posterior hairline Wide intermamillary distance Thin upper lip vermilion High palate Increased size of nasopharyngeal adenoids Generalized hypotonia Delayed ossification of the hand bones Abnormal mandibular ramus morphology Abnormality of premolar morphology Abnormal mandible coronoid process morphology Stiff interphalangeal joints Abnormality of the tympanic membrane Abnormality of glycosaminoglycan metabolism Abnormality of the pubic bone Lumbar kyphosis Abnormal mitral valve morphology Delayed ossification of carpal bones Sclerosis of skull base Large face Mucopolysacchariduria Biconcave vertebral bodies Chronic rhinitis Recurrent ear infections Abnormal diaphysis morphology Diaphyseal thickening Broad femoral neck Abnormal nerve conduction velocity Rhinorrhea Abnormality of peripheral nerve conduction Sagittal craniosynostosis Hypoplasia of teeth Abnormal aortic valve morphology Constrictive median neuropathy Endocardial fibroelastosis Seborrheic dermatitis Difficulty standing Anterior open bite Abnormal CNS myelination Abnormal hand morphology Cervical kyphosis Short mandibular rami Hernia of the abdominal wall Thoracolumbar kyphoscoliosis Calvarial hyperostosis Cervical myelopathy Abnormality of the middle ear ossicles Enlargement of the wrists Thick vermilion border Meckel diverticulum Atlantoaxial dislocation Abnormality of the gingiva J-shaped sella turcica Prominent sternum Anterior rib cupping Large sella turcica Flared nostrils Narrow pelvis bone High, narrow palate Skeletal muscle atrophy Inability to walk Tremor Dysphonia Torticollis Clumsiness Bulbous nose Myoclonus Dystonia Gait disturbance Dysarthria Generalized dystonia Spasticity Anteverted ears Diastema Pendular nystagmus Abnormality of the pinna Retinoschisis Tracheobronchomalacia Limb dystonia Laryngeal dystonia Intestinal pseudo-obstruction Melanoma Entropion Poikiloderma Basal cell carcinoma Squamous cell carcinoma Keratitis Ectropion Dermal atrophy Conjunctivitis Oromandibular dystonia Hyperpigmentation of the skin Telangiectasia Cutaneous photosensitivity Hypopigmentation of the skin Photophobia Retrocollis Craniofacial dystonia Abnormal posturing Cervical cord compression Papilledema Freckles in sun-exposed areas Venous thrombosis Heterochromia iridis Capillary hemangioma Hearing abnormality Pulmonary embolism Hyperostosis Abnormality of vision Arnold-Chiari malformation Cerebral calcification Abnormality of the retinal vasculature Retinal detachment Iris coloboma Neurological speech impairment Autistic behavior Cerebral cortical atrophy Blindness Dysphagia Hyperreflexia Abnormality of the cerebral vasculature Hemianopia Scaphocephaly Tetraparesis Mild short stature Incoordination Spastic tetraparesis Intellectual disability, progressive Exercise intolerance Hoarse voice Abnormality of retinal pigmentation Thick lower lip vermilion Visceral angiomatosis Spastic tetraplegia Pigmentary retinopathy Tetraplegia Postural instability Abnormality of the cerebral white matter Rod-cone dystrophy Abnormal choroid morphology Conjunctival telangiectasia Cutaneous melanoma Cataract Wide nose Hernia Prominent forehead Recurrent respiratory infections Pneumonia Constipation Arrhythmia Visual loss Depressivity Headache Dyspnea Abnormality of the dentition Vomiting Edema Respiratory insufficiency Anteverted nares Abnormality of the skeletal system Frontal bossing Abdominal pain Skeletal dysplasia Hypertension Severe global developmental delay Hirsutism Thick eyebrow Abnormality of skin pigmentation Retinal degeneration Genu valgum Synophrys Carious teeth Pectus carinatum Elevated hepatic transaminase Nyctalopia Abnormal pyramidal sign Camptodactyly of finger Craniosynostosis Wide mouth Joint stiffness Mental deterioration Conductive hearing impairment Wide nasal bridge Feeding difficulties Intrauterine growth retardation Delayed skeletal maturation Coronal craniosynostosis Brittle hair Broad-based gait Bilateral sensorineural hearing impairment Ichthyosis Small for gestational age Intellectual disability, moderate Macular atrophy Long-tract signs Cortical gyral simplification Hypoplasia of the brainstem Optic nerve hypoplasia Sloping forehead Prominent nose Cerebellar hypoplasia Cerebral atrophy Cerebellar atrophy Slow-growing hair Mild intrauterine growth retardation Muscular hypotonia Single median maxillary incisor Abnormal facial shape Sensorineural hearing impairment Hypertelorism Scoliosis Abdominal situs ambiguus Proboscis Cyclopia Abnormality of the nose Tiger tail banding Hypoplasia of the fovea Holoprosencephaly Hypotelorism Hypermetropia Hydronephrosis Midface retrusion Dilatation Malar flattening Broad finger


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