Strabismus, and Ectodermal dysplasia

Diseases related with Strabismus and Ectodermal dysplasia

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


Top matches:

Low match CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4; PPCD4


PPCD4 is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape. There is inter- and intrafamilial as well as intraindividual variability. Symptoms can include blurred vision due to corneal edema, reduced visual acuity, secondary glaucoma, and corectopia; some affected individuals are asymptomatic. Rare patients have undergone enucleation for painful eye (Liskova et al., 2018).For a discussion of genetic heterogeneity of PPCD, see {122000}.

Related symptoms:

  • Hearing impairment
  • Edema
  • Glaucoma
  • Reduced visual acuity
  • Ectodermal dysplasia


SOURCES: OMIM MENDELIAN

More info about CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4; PPCD4

Low match EEM SYNDROME


EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).

EEM SYNDROME Is also known as eem syndrome|ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Related symptoms:

  • Strabismus
  • Abnormality of the dentition
  • Syndactyly
  • Abnormality of the eye
  • Camptodactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about EEM SYNDROME

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 54; MRD54

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Other less relevant matches:

Low match HIDROTIC ECTODERMAL DYSPLASIA


Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.

HIDROTIC ECTODERMAL DYSPLASIA Is also known as ectodermal dysplasia 2, clouston type|ectodermal dysplasia, hidrotic, 2, formerly|ectd2|clouston hidrotic ectodermal dysplasia|ectodermal dysplasia, hidrotic, autosomal dominant|clouston syndrome|hed2, formerly

Related symptoms:

  • Short stature
  • Strabismus
  • Cataract
  • Cognitive impairment
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIDROTIC ECTODERMAL DYSPLASIA

Low match IVIC SYNDROME


IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.

IVIC SYNDROME Is also known as oculo-oto-radial syndrome|oculootoradial syndrome|oors|radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Strabismus
  • Thrombocytopenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about IVIC SYNDROME

Low match SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME


Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 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

Low match ELLIS VAN CREVELD SYNDROME


Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia|mesoectodermal dysplasia|chondroectodermal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ELLIS VAN CREVELD SYNDROME

Low match MARSHALL SYNDROME


Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

Low match 2Q32Q33 MICRODELETION SYNDROME


2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Strabismus and Ectodermal dysplasia

Symptoms // Phenotype % cases
Abnormality of the dentition Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Strabismus and Ectodermal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Nail dysplasia Seizures Sparse hair Microcephaly Visual impairment Anteverted nares Hearing impairment Cataract Sparse and thin eyebrow Hyperhidrosis Nail dystrophy Fine hair Sparse eyelashes Severe short stature Hypotrichosis Sparse scalp hair

Rare Symptoms - Less than 30% cases


Genu valgum Hyperkeratosis Tented upper lip vermilion Amblyopia Hyperpigmentation of the skin Hand polydactyly Conical tooth Synostosis of carpal bones Failure to thrive Spasticity Brachycephaly Thick nail Midface retrusion Long philtrum Malar flattening Renal agenesis Frontal bossing Hypohidrotic ectodermal dysplasia Hypertelorism Micrognathia Hypodontia Wide nasal bridge Delayed eruption of teeth Retinal detachment Scoliosis Glaucoma Low-set ears High palate Alopecia Intrauterine growth retardation Abnormality of the eye Delayed speech and language development Finger syndactyly Microphthalmia Abnormal facial shape Talipes equinovarus Generalized hypotonia Global developmental delay Carious teeth Absent speech Short nose Microdontia Feeding difficulties Abnormality of the skeletal system Short philtrum Abnormality of dental morphology Cleft upper lip Thin vermilion border Camptodactyly Myopia Hypohidrosis Ectopia lentis Sparse eyebrow Thickened calvaria Aplasia cutis congenita Pierre-Robin sequence Coxa valga Arthralgia Depressivity Thick upper lip vermilion Radial bowing Epicanthus Thick lower lip vermilion Vitreoretinopathy High myopia Recurrent otitis media Cerebral calcification Otitis media Proptosis Esotropia Bifid uvula Hypoplasia of the maxilla Flat face Congenital cataract Platyspondyly Osteoarthritis Hypoplasia of the zygomatic bone Abnormal oral mucosa morphology Depressed nasal bridge Hydroureter Abnormality of the ureter Natal tooth Abnormal heart valve morphology Disproportionate short stature Atrioventricular canal defect Agenesis of permanent teeth Short thorax Thoracic hypoplasia Hypoplastic left heart Dextrocardia Upper limb undergrowth Emphysema Mild short stature Hypoplastic toenails Cubitus valgus Abnormality of pelvic girdle bone morphology Short long bone Renal hypoplasia/aplasia Abnormality of the fingernails Abnormality of dental enamel Foot polydactyly Postaxial foot polydactyly Sensorineural hearing impairment Common atrium Nystagmus Cone-shaped epiphyses of phalanges 2 to 5 Abnormality of the alveolar ridges Acetabular spurs Short iliac bones Congenital megaureter Capitate-hamate fusion Conical incisor Abnormal oral frenulum morphology Abnormality of bone marrow cell morphology Aplasia/Hypoplasia of the lungs Neonatal short-limb short stature Concave nasal ridge Horizontal ribs Epispadias Abnormal hair quantity Abnormality of female internal genitalia Thoracic dysplasia Hypoplastic iliac wing Acute leukemia Hypoplastic ilia Hyperreflexia Anhidrotic ectodermal dysplasia Hemiparesis Relative macrocephaly Oligodontia Drooling Microretrognathia Long eyelashes Dental crowding Broad thumb Broad-based gait Thin skin Short palpebral fissure Overlapping toe Intellectual disability, profound Decreased testicular size Convex nasal ridge Febrile seizures Dental malocclusion Prominent nose Sleep disturbance Downturned corners of mouth Wide nose Short palm Dermal atrophy Bilateral talipes equinovarus Bulbous nose Overbite Conspicuously happy disposition Narrow maxilla Incomprehensible speech Dacryocystitis Large beaked nose Median cleft palate Toe clinodactyly Happy demeanor Pes valgus Excessive salivation Myopathic facies Generalized osteoporosis Cleft soft palate Broad hallux phalanx Short columella Self-mutilation Narrow nose Abnormality of the periventricular white matter Restlessness Abnormality of digit Long nose Thick eyebrow Long face Ulnar bowing Small distal femoral epiphysis Behavioral abnormality Intellectual disability, severe Downslanted palpebral fissures Macrocephaly Brachydactyly Short ribs Flexion contracture Ptosis Muscular hypotonia Meningeal calcification Inguinal hernia Small proximal tibial epiphyses Wide tufts of distal phalanges Irregular distal femoral epiphysis Irregular proximal tibial epiphyses Macrodontia of permanent maxillary central incisor Calcification of falx cerebri Abnormal vitreous humor morphology Hypoplastic frontal sinuses Absent frontal sinuses Lens luxation Hernia Clinodactyly of the 5th finger Arachnodactyly Attention deficit hyperactivity disorder Smooth philtrum Talipes Joint hyperflexibility Poor speech Facial asymmetry Abnormality of the foot Abnormality of the cerebral white matter Broad forehead Prominent nasal bridge Postnatal growth retardation Posteriorly rotated ears Joint laxity Aggressive behavior Anxiety Thin upper lip vermilion Osteopenia High forehead Autism Narrow mouth Hyperactivity Osteoporosis Abnormality of the nail Supernumerary ribs Abnormality of the hair Joint stiffness Triphalangeal thumb Radioulnar synostosis Hypoplasia of the radius Abnormal dermatoglyphics External ophthalmoplegia Short thumb Intestinal malrotation Anal atresia Arrhythmia Leukocytosis Thrombocytopenia Abnormality of nail color Absent pubic hair Palmar hyperkeratosis Hidrotic ectodermal dysplasia Absent axillary hair Clubbing of toes Hyperconvex nail Abnormal nasolacrimal system morphology Preaxial hand polydactyly Right bundle branch block Alopecia totalis Pectoralis major hypoplasia Premature birth Asthma Iris coloboma Coloboma Cleft lip Hypothyroidism Agenesis of corpus callosum Intellectual disability, mild Hypoplasia of deltoid muscle Limited interphalangeal movement Bundle branch block Limited wrist movement Small thenar eminence Aplastic clavicle Limited elbow movement Carpal bone hypoplasia Rectovaginal fistula Short 1st metacarpal Carpal synostosis Absent thumb Slow-growing hair Craniofacial hyperostosis Specific learning disability Widely spaced teeth Cerebellar atrophy Hypoplasia of the corpus callosum Selective tooth agenesis Ectrodactyly Sparse body hair Macular dystrophy Absent eyebrow Abnormality of vision Macular degeneration Gastroesophageal reflux Joint contracture of the hand Abnormality of retinal pigmentation Split hand Retinopathy Syndactyly Ectopia pupillae Blurred vision Exotropia Reduced visual acuity Constipation EEG abnormality Onycholysis Scaling skin Sparse pubic hair Clubbing of fingers Sparse axillary hair Fair hair Fragile nails Blepharitis Irregular hyperpigmentation Generalized hyperpigmentation Clubbing Brittle hair Abnormality of eye movement Palmoplantar hyperkeratosis Conjunctivitis Skin ulcer Small nail Palmoplantar keratoderma Photophobia Cognitive impairment Postnatal microcephaly Inability to walk Growth hormone deficiency Tetralogy of Fallot Situs inversus totalis Abnormality of the vasculature Scarring alopecia of scalp Edema Breast aplasia Breast hypoplasia Generalized osteosclerosis Ridged nail Anodontia Hypoplasia of the fovea Pustule Nail pits Uveitis Hypoplastic nipples Supernumerary nipple Hyperostosis Keratitis Coarse hair Eosinophilia Hemivertebrae Increased bone mineral density Retinal hemorrhage Hyperpigmented streaks Abnormal blistering of the skin Abnormality of the kidney Heterotopia Postaxial hand polydactyly Limb undergrowth Dandy-Walker malformation Postaxial polydactyly Short distal phalanx of finger Micromelia Narrow chest Pectus carinatum Skeletal dysplasia Retinal vascular proliferation Polydactyly Delayed skeletal maturation Abnormal heart morphology Hypospadias Abnormality of cardiovascular system morphology Atrial septal defect Ventricular septal defect Cryptorchidism Atrophic, patchy alopecia Lymphedema Nevus Hypotelorism Narrow nasal bridge Single median maxillary incisor Nasal obstruction Panhypopituitarism Hyposmia Abnormality of chromosome segregation Duodenal atresia Maternal diabetes Median cleft lip Hamartoma Anophthalmia Cyclopia Precocious puberty Anosmia EMG: myopathic abnormalities Hemangioma Holoprosencephaly Choanal atresia Depressed nasal ridge Hypoplasia of penis Ambiguous genitalia Abnormality of the nasopharynx Semilobar holoprosencephaly Tetraplegia Visual loss Hypopigmentation of the skin Abnormality of skin pigmentation Malabsorption Papule Skin rash Scarring Erythema Pallor Kyphoscoliosis Recurrent infections Hypothalamic hamartoma Immunodeficiency Optic atrophy Fever Neoplasm Midnasal stenosis Pyriform aperture stenosis Prominent median palatal raphe Single naris Torus palatinus Narrow jaw



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