Microphthalmia, and Epidermal acanthosis

Diseases related with Microphthalmia and Epidermal acanthosis

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


Top matches:

High match ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME


Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Medium match MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB


MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB Is also known as lipodystrophy, type b, associated with mandibuloacral dysplasia

Related symptoms:

  • Growth delay
  • Micrognathia
  • Flexion contracture
  • High palate
  • Abnormality of the skeletal system


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB

Medium match PROTEUS SYNDROME


Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

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Other less relevant matches:

Medium match MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME


Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

Medium match MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR


Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Medium match X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA


X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Is also known as x-linked chondrodysplasia punctata type 2|cpxd|cdpxd|conradi-hunermann-happle syndrome|happle syndrome|conradi-hunermann syndrome|cdpx2|chondrodystrophia calcificans congenita|conradi-h√únermann-happle syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA

Medium match FAMILIAL BENIGN CHRONIC PEMPHIGUS


Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Low match GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE


Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE Is also known as igf-i resistance|resistance to igf-1|somatomedin, end-organ insensitivity to|somatomedin-c, resistance to

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

Top 5 symptoms//phenotypes associated to Microphthalmia and Epidermal acanthosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Glaucoma Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Optic atrophy Severe short stature Ptosis Alopecia Myopia Flexion contracture Global developmental delay Scaling skin Seizures Nystagmus Hearing impairment Microcephaly Growth delay Long philtrum Postnatal growth retardation Dry skin Sparse hair Hip dislocation Full cheeks Upslanted palpebral fissure Corneal opacity Specific learning disability Abnormal nasolacrimal system morphology Abnormality of the skeletal system Lymphoma Abnormal vertebral morphology Edema Subcutaneous nodule Thickened skin Abnormality of retinal pigmentation Lymphedema Microcornea Venous thrombosis Abnormal eyelash morphology Sensorineural hearing impairment Erythema Hypertonia Wide nasal bridge Visual loss Scoliosis Failure to thrive Muscular hypotonia Strabismus Abnormal facial shape Frontal bossing Hypoplasia of the corpus callosum Kyphosis Downslanted palpebral fissures Anteverted nares Macrotia Epicanthus Lipodystrophy Kyphoscoliosis Skeletal dysplasia

Rare Symptoms - Less than 30% cases


Short palm Hypoplastic fingernail Delayed cranial suture closure Broad nasal tip Depressed nasal bridge Low-set ears Abnormal eyelid morphology Chorioretinal dysplasia Overgrowth Neoplasm Thin upper lip vermilion Mandibular prognathia Dermal atrophy Generalized hypotonia Congenital ichthyosiform erythroderma Macrocephaly Patent foramen ovale Talipes equinovarus Short nose Abnormality of skin pigmentation Clinodactyly of the 5th finger Small for gestational age Joint stiffness Malar flattening Retrognathia Proptosis Narrow mouth Abnormality of the neck Agitation Concave nasal ridge High palate Abnormality of hair texture Intellectual disability, moderate Acanthosis nigricans Small hand Short foot Delayed eruption of teeth Melanonychia Erysipelas Panniculitis Talipes Amblyopia Status epilepticus Sloping forehead Retinal detachment Thick vermilion border Retinal dystrophy Nail dysplasia Wide nose Leukemia Retinopathy Postaxial polydactyly Ichthyosis Astigmatism Rigidity Muscle stiffness Nail dystrophy Blindness Atrial septal defect Hydronephrosis Spasticity Polydactyly Delayed skeletal maturation Recurrent infections Immunodeficiency Intellectual disability, severe Intrauterine growth retardation Feeding difficulties Cryptorchidism Cleft palate Skin ulcer Protruding ear Flat face Hemivertebrae Retinal dysplasia Abnormal toenail morphology Gangrene Erythroderma Cellulitis Abnormality of dental enamel Anophthalmia Underdeveloped supraorbital ridges Chylothorax Multiple cafe-au-lait spots Pointed chin Abnormality of the hair Leukonychia Abnormality of the nail Abnormality of the optic nerve Midface retrusion Abnormality of the pinna Short neck Connective tissue nevi Central heterochromia Abnormality of the dentition Neoplasm of the thymus Abnormal subcutaneous fat tissue distribution Depressivity Reduced visual acuity Retinal nonattachment Bronchogenic cyst Hyperactivity Retinal hamartoma Prominent forehead Polyhydramnios Intellectual disability, mild Thymus hyperplasia Abnormality of the nervous system Nevus sebaceous Depigmentation/hyperpigmentation of skin Deep philtrum Hypertrophy of skin of soles Cortical gyral simplification Optic nerve hypoplasia Flat occiput Thick lower lip vermilion Bilateral sensorineural hearing impairment Pigmentary retinopathy Abnormality of vision Pleural effusion Sleep disturbance Esotropia Hypermetropia Abnormality of the eye Attention deficit hyperactivity disorder Mandibular hyperostosis Chorioretinal atrophy Vitreoretinopathy Retinal fold Congenital microcephaly Prominent nasal tip Retinal thinning Aggressive behavior Exudative vitreoretinopathy Myopic astigmatism Bilateral ptosis Chorioretinal lacunae Neonatal hypotonia Hypertension Hip dysplasia Ventricular septal defect Inability to walk Short distal phalanx of finger Thin vermilion border Smooth philtrum Synophrys Muscular hypotonia of the trunk Anxiety Deeply set eye Diabetes mellitus Clinodactyly Pectus excavatum Obesity Motor delay Highly arched eyebrow Delayed speech and language development Cognitive impairment Forearm reduction defects Zonular cataract Bilateral radial aplasia Juvenile cataract Annular pancreas Duodenal stenosis Iris atrophy Aplasia/Hypoplasia of the patella Skin erosion Acantholysis Patellar aplasia Everted lower lip vermilion Triangular face Poikiloderma Severe intrauterine growth retardation Increased serum insulin-like growth factor 1 Burkitt lymphoma Hypoplastic facial bones Prominent scalp veins Rieger anomaly Broad finger Esodeviation Perimembranous ventricular septal defect Abnormality of the rib cage Small face Maternal diabetes Severe failure to thrive Reduced subcutaneous adipose tissue Webbed neck Truncal obesity High pitched voice Radial deviation of finger Pterygium Sandal gap Accelerated skeletal maturation Finger clinodactyly Cafe-au-lait spot Decreased body weight Sparse scalp hair Blue sclerae Type II diabetes mellitus Wide intermamillary distance Rectovaginal fistula Osteosarcoma Dandy-Walker malformation Patellar dislocation Elevated 8(9)-cholestenol Elevated 8-dehydrocholesterol Punctate vertebral calcifications Tracheal calcification Hyperkeratosis with erythema Vertebral wedging Patchy alopecia Hemiatrophy Scarring alopecia of scalp Butterfly vertebrae Dry hair Tracheal stenosis Foot polydactyly Stippled calcification in carpal bones Epiphyseal stippling Aplasia/Hypoplasia of the skin Bilateral talipes equinovarus Abnormality of the thorax Coarse hair Abnormality of pelvic girdle bone morphology Sparse eyelashes Abnormality of the fingernails Joint dislocation Sparse and thin eyebrow Rhizomelia Abnormality of epiphysis morphology Limb undergrowth Tarsal stippling Anemia Absent radius Congenital hip dislocation Proportionate short stature Aplasia/Hypoplasia of the thumb Anteriorly placed anus Increased number of teeth Skin vesicle Absent thumb Agenesis of permanent teeth Basal cell carcinoma Premature graying of hair Squamous cell carcinoma Pyloric stenosis Sarcoma Neoplasm of the skin Short thumb Narrow internal auditory canal Telangiectasia Short palpebral fissure Cutaneous photosensitivity Microdontia Growth hormone deficiency Hypodontia Hypopigmentation of the skin Anal atresia Skin rash Hypogonadism Osteoporosis Diarrhea Vomiting Facial hyperostosis Ovarian neoplasm Sirenomelia Oxycephaly Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Subcortical cerebral atrophy Corneal scarring Abnormality of the upper urinary tract Cheilitis Alopecia universalis Thin eyebrow Thin fingernail Alopecia totalis Olivopontocerebellar atrophy Recurrent corneal erosions Heat intolerance Follicular hyperkeratosis Corneal erosion Absent eyelashes Blepharitis Alopecia of scalp Parakeratosis Uveitis Scleritis Abnormal pelvis bone morphology Oligodactyly Brittle hair Poor wound healing Hypoplasia of teeth Osteolytic defects of the phalanges of the hand Abnormally large globe Narrow nose Premature loss of teeth Insulin-resistant diabetes mellitus Short clavicles Lipoatrophy Glucose intolerance Hyperglycemia Hyperinsulinemia Ichthyosis follicularis Hypercholesterolemia Hyperlipidemia Short chin Wormian bones Insulin resistance Short phalanx of finger Dental crowding Thin skin Hypertriglyceridemia Convex nasal ridge Premature birth Unilateral chest hypoplasia Submucous cleft hard palate Ectrodactyly Generalized lipodystrophy Mental deterioration Palmoplantar keratoderma Pulmonary hypoplasia Hypotrichosis Platyspondyly Papule Camptodactyly of finger Scarring Respiratory tract infection Developmental regression Camptodactyly Abnormality of the kidney Photophobia Ectodermal dysplasia Umbilical hernia Cerebral cortical atrophy Hyperhidrosis Dementia Recurrent respiratory infections Agenesis of corpus callosum Cerebellar hypoplasia Inguinal hernia Hernia Dilatation Respiratory distress Ventriculomegaly Brain atrophy Postaxial hand polydactyly Atonic seizures Abnormality of the hand Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Hydroureter Absent eyebrow Keratitis Intestinal obstruction Bifid scrotum Unilateral renal agenesis Psoriasiform dermatitis Urticaria Plagiocephaly Eczema Opacification of the corneal stroma Conjunctivitis Recurrent bacterial infections Multicystic kidney dysplasia Hypohidrosis Hypoplasia of dental enamel Renal dysplasia Aganglionic megacolon Omphalocele Choanal atresia Abnormality of the ribs Oligohydramnios Narrow nasal ridge Loss of subcutaneous adipose tissue in limbs Macrodactyly Neoplasm of the lung Varicose veins Deep venous thrombosis Meningioma Macroorchidism Abnormality of the wrist Abnormality of finger Spinal cord compression Capillary hemangioma Papilledema Exostoses Lipoma Abnormal lung lobation Lower limb asymmetry Irregular hyperpigmentation Spinal canal stenosis Pulmonary embolism Generalized hyperpigmentation Hamartoma Multiple lipomas Neurofibromas Pericardial effusion Disproportionate tall stature Hallux valgus Decreased muscle mass Diabetes insipidus Arteriovenous malformation Hemihypertrophy Melanocytic nevus Neoplasm of the central nervous system Portal vein thrombosis Calvarial hyperostosis Metatarsus valgus Epidermal nevus Lymphangioma Testicular neoplasm Upper limb asymmetry Keloids Nephrogenic diabetes insipidus Epibulbar dermoid Venous malformation Generalized hyperkeratosis Anisocytosis Thrombophlebitis Vascular skin abnormality Asymmetry of the thorax Asymmetric growth Enlarged polycystic ovaries Thick nasal alae Visceral angiomatosis Long penis Thin bony cortex Myofibrillar myopathy Buphthalmos Arterial thrombosis Hyperostosis Chorioretinal coloboma Mottled pigmentation Abnormal tongue morphology Abdominal pain Constipation Abnormality of cardiovascular system morphology Headache Syndactyly Splenomegaly Fever Pain Hypertelorism Facial shape deformation Decreased adipose tissue around neck Loss of truncal subcutaneous adipose tissue Craniosynostosis Increased circulating free fatty acid level Increased subcutaneous truncal adipose tissue Reduced intrathoracic adipose tissue Prominent superficial blood vessels Progressive clavicular acroosteolysis Acroosteolysis of distal phalanges (feet) Increased intraabdominal fat Increased adipose tissue around the neck Loss of facial adipose tissue Osteolytic defects of the distal phalanges of the hand Bird-like facies Contractures of the large joints Carcinoma Finger syndactyly Cachexia Open mouth Growth abnormality Reduced number of teeth Palmoplantar hyperkeratosis Goiter Abnormality of the metacarpal bones Hemangioma Generalized hirsutism Lymphopenia Sinusitis Heterotopia Abnormal form of the vertebral bodies High myopia Dolichocephaly Decreased antibody level in blood Round face Nevus Gliosis Sudden cardiac death Abdominal distention Renal cyst Polymicrogyria Long face Confusion Facial asymmetry Carious teeth Coloboma



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