Microphthalmia, and Atopic dermatitis

Diseases related with Microphthalmia and Atopic dermatitis

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


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Medium match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR


Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Low match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2


LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 Is also known as aplcc|aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2

Low 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

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Other less relevant matches:

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

Low match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Low match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Low 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

Low match TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1


Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008). Genetic Heterogeneity of TrichothiodystrophyAlso see TTD2 (OMIM ), caused by mutation in the ERCC3/XPB gene (OMIM ); TTD3 (OMIM ), caused by mutation in the GTF2H5 gene (OMIM ); TTD4 (OMIM ), caused by mutation in the MPLKIP gene (OMIM ); TTD5 (OMIM ), caused by mutation in the RNF113A gene (OMIM ); and TTD6 (OMIM ), caused by mutation in the GTF2E2 gene (OMIM ).

TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1 Is also known as ttdp|ichthyosiform erythroderma with hair abnormality and mental and growth retardation|trichothiodystrophy, photosensitive|trichothiodystrophy with congenital ichthyosis|ichthyosis, congenital, with trichothiodystrophy|pibids syndrome|tay syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE; TTD1

Low match INCONTINENTIA PIGMENTI


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

Low 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

Top 5 symptoms//phenotypes associated to Microphthalmia and Atopic dermatitis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Optic atrophy Failure to thrive Spasticity Strabismus Atrial septal defect Alopecia Growth delay Sparse hair Nystagmus Epicanthus Long philtrum Hyperkeratosis Anteverted nares Ptosis Ichthyosis Erythema Hypertonia Visual impairment Myopia Edema Scaling skin Muscular hypotonia Retinal detachment Lymphedema Dry skin Downslanted palpebral fissures Abnormal facial shape Micrognathia Hypertelorism Scoliosis Hearing impairment Generalized hypotonia High palate Short neck Abnormality of the dentition Intellectual disability, severe Abnormal toenail morphology Ventriculomegaly Skin ulcer Cardiomyopathy Hyperpigmentation of the skin Corneal opacity Abnormality of the fingernails Erythroderma Abnormal eyelash morphology Skin rash Retinal dystrophy Optic nerve hypoplasia Coarse hair Upslanted palpebral fissure Deep philtrum Nail dystrophy Delayed speech and language development Fine hair Abnormality of skin pigmentation Thickened skin Low-set ears Status epilepticus Hypertrophic cardiomyopathy Leukemia Posteriorly rotated ears Prominent forehead Hyperactivity Thick vermilion border Macrotia High forehead Protruding ear Retrognathia Umbilical hernia Microcornea Full cheeks Sloping forehead Glaucoma Attention deficit hyperactivity disorder Visual loss Blindness Short nose Neoplasm Cerebral cortical atrophy Abnormality of hair texture Macrocephaly Underdeveloped supraorbital ridges

Rare Symptoms - Less than 30% cases


Gangrene Leukonychia Alopecia of scalp Abnormality of the optic nerve Congenital microcephaly Cellulitis Abnormality of the hair Lymphoma Specific learning disability Subcutaneous nodule Amblyopia Abnormality of retinal pigmentation Abnormal nasolacrimal system morphology Muscle stiffness Anophthalmia Pointed chin Venous thrombosis Abnormality of vision Patchy alopecia Pleural effusion Woolly hair Chylothorax Malabsorption Erysipelas Bilateral ptosis Splenomegaly Kyphosis Malar flattening Congenital ichthyosiform erythroderma Thrombocytopenia Depressivity Clinodactyly of the 5th finger Hyperhidrosis Abnormality of the thorax Polyhydramnios Hydronephrosis Frontal bossing Aggressive behavior Hypermetropia Astigmatism Brittle hair Flexion contracture Cognitive impairment Sleep disturbance Cerebral visual impairment Abnormality of the nail Sparse eyelashes Congestive heart failure Hepatomegaly Panniculitis Nevus Chorioretinal dysplasia Melanonychia Fever Recurrent infections Kyphoscoliosis Scarring Sensorineural hearing impairment Delayed eruption of teeth Hypodontia Tetraplegia Nail dysplasia Depressed nasal bridge Abnormal blistering of the skin Increased bone mineral density Hemivertebrae Eosinophilia Keratitis Uveitis Supernumerary ribs Scarring alopecia of scalp Retinal hemorrhage Retinal vascular proliferation Supernumerary nipple Retinal dysplasia Wide nose Cafe-au-lait spot Dandy-Walker malformation Eczema Coarctation of aorta Ventricular hypertrophy Low posterior hairline Thick lower lip vermilion Abnormal palate morphology Growth hormone deficiency Relative macrocephaly Patent foramen ovale Failure to thrive in infancy Aplasia/Hypoplasia of the eyebrow Neurodevelopmental delay Freckling Wide intermamillary distance Webbed neck Fragile nails Delayed skeletal maturation Cryptorchidism Feeding difficulties Ventricular septal defect Hydrocephalus Vomiting Abnormality of cardiovascular system morphology Pectus excavatum Gastroesophageal reflux Retinopathy Low-set, posteriorly rotated ears Postnatal growth retardation Pectus carinatum Dolichocephaly Hypotrichosis Pulmonic stenosis Joint hypermobility Arnold-Chiari type I malformation High, narrow palate Abnormality of the testis Slow-growing hair Telecanthus Hernia Hypoplasia of the corpus callosum Talipes equinovarus Abnormal location of ears Wide nasal bridge Severe short stature Abnormality of the pulmonary artery Thickened helices Pulmonary arterial hypertension Abnormality of refraction Rigidity Abnormality of the eye Microretrognathia Dystrophic toenail Anterior creases of earlobe Mandibular prognathia Reduced visual acuity Abnormality of the optic disc Intellectual disability, mild Elevated 8(9)-cholestenol Hearing abnormality Purpura Thin upper lip vermilion Abnormal tricuspid valve morphology Increased CSF protein Petechiae Lissencephaly Spastic tetraparesis Hypoplastic fingernail Elevated 8-dehydrocholesterol Opacification of the corneal stroma Chorioretinal atrophy Chorioretinal lacunae Myopic astigmatism Exudative vitreoretinopathy Retinal thinning Prominent nasal tip Retinal fold Vitreoretinopathy Cortical gyral simplification Neonatal hypotonia Agitation Flat occiput Bilateral sensorineural hearing impairment Pigmentary retinopathy Overgrowth Broad nasal tip Punctate vertebral calcifications Verrucae Irregular hyperpigmentation Decreased liver function Functional abnormality of the gastrointestinal tract Cutaneous T-cell lymphoma Hypoplasia of the frontal lobes Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Tarsal stippling Hyperreflexia Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Generalized ichthyosis Abnormality of the hairline Laryngeal cleft Hyperkeratosis pilaris Tongue thrusting Anemia Renal insufficiency Postnatal microcephaly Abnormality of movement Pachygyria Tetraparesis Intellectual disability, profound Cerebral calcification Cerebral ischemia Gliosis Polymicrogyria Congenital cataract Cerebellar hypoplasia Generalized tonic-clonic seizures Optic nerve dysplasia Abnormality of the liver Muscular hypotonia of the trunk Elevated hepatic transaminase Hepatosplenomegaly Jaundice Micropenis Neuronal loss in central nervous system Deviation of finger Tracheal calcification Camptodactyly of finger Aplasia/Hypoplasia of the skin Osteolysis Epiphyseal stippling Abnormality of dental enamel Blue sclerae Oral cleft Finger syndactyly Gait disturbance Skeletal dysplasia Lack of subcutaneous fatty tissue Tiger tail banding Jerky ocular pursuit movements Titubation Foot polydactyly Trichorrhexis nodosa Patellar dislocation Corneal neovascularization Spina bifida occulta Bilateral talipes equinovarus Tracheal stenosis Abnormality of dental morphology Flat face Postaxial polydactyly Esotropia Talipes Hemiplegia/hemiparesis Hip dysplasia Limb undergrowth Abnormality of epiphysis morphology Rhizomelia Abnormality of the nervous system Abnormality of the pinna Encephalitis Abnormal vertebral morphology Hypopigmented skin patches Sparse and thin eyebrow Joint dislocation Abnormality of pelvic girdle bone morphology Intellectual disability, moderate Congenital nonbullous ichthyosiform erythroderma Pili torti Areflexia Small nail Macular degeneration Hyperkeratosis with erythema Abnormal chorioretinal morphology Absent hand Telangiectasia Chronic diarrhea Abnormality of the face Cutaneous photosensitivity Decreased antibody level in blood Ridged fingernail Asthma Small for gestational age Asymmetric growth Photophobia Telangiectasia of the skin Hypogonadism Pneumonia Babinski sign Dysphonia Vertebral wedging Progeroid facial appearance Keratoconjunctivitis sicca Endocarditis Concave nasal ridge Dry hair IgG deficiency Butterfly vertebrae Hyperactive deep tendon reflexes Polydactyly Abnormality of immune system physiology Midface retrusion Intestinal obstruction Abnormality of the skeletal system Broad nail Hemiatrophy Decreased fertility Basal cell carcinoma Spastic diplegia Squamous cell carcinoma Abnormal hand morphology Frontal balding EEG abnormality Increased nuchal translucency Hypopigmentation of the skin Conical tooth Anodontia Hypoplasia of the fovea Abnormality of the vasculature Pustule Hypoplastic nipples Hyperostosis Ectodermal dysplasia Papule Thick nail Pallor Immunodeficiency Abnormal eyelid morphology Ureteral duplication Aplasia cutis congenita Sandal gap Short chin Spontaneous abortion Ridged nail Generalized osteosclerosis Optic disc pallor Cerebral atrophy Coarse facial features Osteopenia Proptosis Autism Constipation Inguinal hernia Abnormal heart morphology Encephalopathy Behavioral abnormality Breast hypoplasia Dysphagia Dysarthria Ataxia Atrophic, patchy alopecia Hyperpigmented streaks Nail pits Hypohidrotic ectodermal dysplasia Breast aplasia Congenital diaphragmatic hernia Tetralogy of Fallot Feeding difficulties in infancy Mitral regurgitation Overfolded helix Nasal speech Increased intracranial pressure Arnold-Chiari malformation Infantile muscular hypotonia Hypocalcemia Hoarse voice Thin skin Sparse scalp hair Right bundle branch block Cyanosis Thin vermilion border Carious teeth Craniosynostosis Hypoglycemia Hypothyroidism Patent ductus arteriosus Brachydactyly Hypoplastic toenails Abnormality of coagulation Renal agenesis Abnormality of the intervertebral disk Delayed myelination Highly arched eyebrow Clinodactyly Hypertension Abnormality of the nasal bridge Broad fingertip Loose anagen hair Superior pectus carinatum Dermal translucency Natal tooth Peripheral pulmonary artery stenosis Redundant neck skin Enlarged cisterna magna Abnormally large globe Hypomagnesemia Hiatus hernia Abnormality of the elbow Broad neck Abnormality of the kidney Irritability Sparse or absent eyelashes Abnormality of the sternum Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Infantile spasms Enlarged kidney Neurofibromas Hydroureter Malnutrition Open bite Large for gestational age Absent eyebrow Obsessive-compulsive behavior Heart murmur Poor appetite Absent eyelashes Cubitus valgus Deep palmar crease Multiple lentigines Cavernous hemangioma Excessive wrinkled skin Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Abnormal mitral valve morphology Gastrointestinal dysmotility Abnormal myocardium morphology Hypoplasia of the zygomatic bone Delayed CNS myelination Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Chronic otitis media Melanocytic nevus Respiratory tract infection Bruising susceptibility Dental malocclusion Premature birth Intestinal malrotation Vesicoureteral reflux Abnormal bleeding Abdominal distention Palmoplantar keratoderma Hepatic steatosis Bulbous nose Abnormality of the cardiovascular system Falls Long face Peripheral axonal neuropathy Genu valgum Abnormality of the cerebral white matter Pruritus Neurological speech impairment Abnormal cardiac septum morphology Progressive visual loss Narrow forehead Ectropion Hemangioma Sparse eyebrow Redundant skin Hyperextensible skin Poor suck Palmoplantar hyperkeratosis Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Aplasia/Hypoplasia of the corpus callosum Cardiomegaly Cutis laxa Oculomotor apraxia Narrow palate Aspiration Decreased body weight Open mouth Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Stippled calcification in carpal bones



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