Cataract, and Ectodermal dysplasia

Diseases related with Cataract and Ectodermal dysplasia

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


Top matches:

Low match AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA


Autosomal dominant palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.

AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA Is also known as ppkca, stevanovic type|keratoderma-hypotrichosis-leukonychia totalis syndrome|palmoplantar keratoderma and congenital alopecia, stevanovic type|autosomal dominant palmoplantar hyperkeratosis and congenital alopecia|ppk-ca, stevanovic type

Related symptoms:

  • Scoliosis
  • Cataract
  • Flexion contracture
  • Alopecia
  • Hyperhidrosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA

Low match OTODENTAL SYNDROME


Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

OTODENTAL SYNDROME Is also known as globodontia|otodental dysplasia|chromosome 11q13 deletion syndrome|otodental syndrome

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Anteverted nares


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTODENTAL SYNDROME

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

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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 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 NEU-LAXOVA SYNDROME


Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.

NEU-LAXOVA SYNDROME Is also known as neu-laxova syndrome|3-phosphoglycerate dehydrogenase deficiency, neonatal form|nls

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME

Low match CATARACT 36; CTRCT36


CATARACT 36; CTRCT36 Is also known as cataract, autosomal recessive congenital 4|catc4

Related symptoms:

  • Cataract


SOURCES: OMIM MENDELIAN

More info about CATARACT 36; CTRCT36

Low match HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME


Hereditary hyperferritinemia with congenital cataracts is characterized by the association of early onset (although generally absent at birth) cataract with persistently raised plasma ferritin concentrations in the absence of iron overload.

HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME Is also known as hereditary hyperferritinemia with congenital cataracts|bonneau-beaumont syndrome|hhcs

Related symptoms:

  • Cataract
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HYPERFERRITINEMIA-CATARACT SYNDROME

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 FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

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

Symptoms // Phenotype % cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
Sparse hair Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypotrichosis Strabismus Short stature Hearing impairment Microphthalmia Nail dysplasia Hypodontia Scoliosis Abnormality of the skeletal system Cleft palate Finger syndactyly Nail dystrophy Microcephaly Delayed eruption of teeth Abnormality of skin pigmentation Hyperkeratosis Erythema Brittle hair

Rare Symptoms - Less than 30% cases


Agenesis of corpus callosum Hypertelorism Hypoplastic nipples Supernumerary nipple Retinal detachment Papule Scarring Optic atrophy Visual impairment Intellectual disability Neoplasm Abnormality of the skin Hypohidrotic ectodermal dysplasia Abnormal nasolacrimal system morphology Spina bifida Ectropion Thick nail Hand polydactyly Reduced visual acuity Sparse eyelashes Nystagmus High palate Low-set ears Cryptorchidism Clinodactyly Abnormality of cardiovascular system morphology Cleft lip Camptodactyly Syndactyly Abnormality of the pinna Abnormal cardiac septum morphology Ventricular septal defect Toe syndactyly Intrauterine growth retardation Growth delay Patent ductus arteriosus Aplasia cutis congenita Hyperpigmentation of the skin Ectopia lentis Amblyopia Thick lower lip vermilion Cerebral calcification Bifid uvula Proptosis Glaucoma Cleft upper lip Sparse and thin eyebrow Edema Sparse scalp hair Palmoplantar keratoderma Hypoplasia of dental enamel Iris coloboma Carious teeth Coloboma Flexion contracture Abnormality of dental enamel Anteverted nares Sensorineural hearing impairment Palmoplantar hyperkeratosis Cognitive impairment Long philtrum Fine hair Ichthyosis Polydactyly Cough Camptodactyly of finger Joint laxity Hydronephrosis Umbilical hernia Gastroesophageal reflux Weight loss Absent septum pellucidum Corneal opacity Abdominal pain Inguinal hernia Abnormal heart morphology Obesity Hernia Blindness Hydrocephalus Microtia Pruritus Large hands Interphalangeal joint contracture of finger Abnormality of epiphysis morphology Telangiectasia Subcutaneous nodule Omphalocele Thin skin Split hand Renal hypoplasia Congenital diaphragmatic hernia Brachydactyly Postaxial hand polydactyly Overgrowth Dental malocclusion Short metacarpal Intestinal malrotation Broad nasal tip Facial asymmetry Abnormality of the foot Dysphagia Ptosis Transposition of the great arteries Broad foot Hydranencephaly Abnormality of nervous system morphology Generalized edema Lack of skin elasticity Abnormal cortical gyration Trismus Abnormal eyelid morphology Absent eyelashes Abnormality of the philtrum Abnormality of the mouth Prominent occiput Severe intrauterine growth retardation Abnormal eyelash morphology External genital hypoplasia Submucous cleft hard palate Osteomalacia Calcaneovalgus deformity Abnormality of the cerebellar vermis Ectopia pupillae Type III lissencephaly Blurred vision Exotropia Radial deviation of finger Rocker bottom foot Bilateral cryptorchidism Abnormality of metabolism/homeostasis Yellow subcutaneous tissue covered by thin, scaly skin Abnormality of neuronal migration Macrogyria Abnormality of limbs Opisthotonus Ablepharon Short umbilical cord Small placenta Aplasia/Hypoplasia involving the skeletal musculature Choroid plexus cyst Bifid uterus Short phalanx of finger Hoarse voice Rickets Ureteral duplication Absent toenail Clitoral hypoplasia Inspiratory stridor Papilloma Total anomalous pulmonary venous return Abnormality of hair texture Abnormal cornea morphology Hand oligodactyly Bifid nose Abnormality of the middle ear Skin nodule Anomalous pulmonary venous return Hypoplasia of teeth Cholangitis Labial hypoplasia Abnormality of the larynx Verrucae Ulcerative colitis Lower limb asymmetry Rough bone trabeculation Foot oligodactyly Duodenal atresia Nonproductive cough Midclavicular hypoplasia Giant cell tumor of bone Apocrine hidrocystoma Cholesteatoma Linear hyperpigmentation Ectopia cordis Bifid ureter Abnormal adipose tissue morphology Abnormality of the pulmonary vasculature Osteopathia striata Absent fingernail Cleft ala nasi Abnormality of the mediastinum Abnormal palmar dermatoglyphics Caudal appendage Ridged fingernail Absence of the sacrum Patchy alopecia Upper limb asymmetry Reticular hyperpigmentation Hypoplastic pelvis Acute hepatic failure Short ribs Recurrent skin infections Open bite Mild short stature Anophthalmia Abnormality of dental morphology Stridor Chorioretinal coloboma Short metatarsal Dermal atrophy Reduced number of teeth Arnold-Chiari malformation Short finger Oligodontia Renal hypoplasia/aplasia Spina bifida occulta Multicystic kidney dysplasia Horseshoe kidney Congenital hip dislocation Pointed chin Increased body weight Abnormality of the nail Hypermelanotic macule Mixed hearing impairment Diastasis recti Short clavicles Truncus arteriosus Myelomeningocele Stenosis of the external auditory canal Aplasia/Hypoplasia of the lungs Hiatus hernia Split foot Hypoplasia of the iris Foot polydactyly Aniridia Oligodactyly Macule Ectrodactyly Facial cleft Anteriorly placed anus Telangiectasia of the skin Abnormality of digit Aplasia/Hypoplasia of the skin Narrow nasal bridge Vertebral fusion Colitis Dry skin Depressed nasal ridge Patent foramen ovale Coarse hair Hypoplasia of the fovea Abnormality of the vasculature Pustule Uveitis High-frequency hearing impairment Macrodontia Hyperostosis Keratitis Eosinophilia Conical tooth Hemivertebrae Increased bone mineral density Lymphedema Abnormal blistering of the skin Nevus Tetraplegia Hypopigmentation of the skin Pulp stones Anodontia Ridged nail High-frequency sensorineural hearing impairment Retinal coloboma Myopia Wide nasal bridge Epicanthus Depressed nasal bridge Increased number of teeth Ankylosis Taurodontia Periodontitis Atrophic, patchy alopecia Generalized osteosclerosis Retinal vascular proliferation Hyperpigmented streaks Nail pits Retinal hemorrhage Scarring alopecia of scalp Supernumerary ribs Breast aplasia Breast hypoplasia Malabsorption Skin rash Progressive sensorineural hearing impairment Fragile nails Slow-growing hair Alopecia totalis Craniofacial hyperostosis Onycholysis Sparse pubic hair Clubbing of fingers Sparse axillary hair Fair hair Blepharitis Abnormality of molar morphology Irregular hyperpigmentation Generalized hyperpigmentation Clubbing Scaling skin Photophobia Small nail Conjunctivitis Skin ulcer Abnormality of the dental pulp Hyperconvex nail Odontoma Spasticity Pallor Kyphoscoliosis Visual loss Recurrent infections Immunodeficiency Lens coloboma Fever Agenesis of premolar Failure to thrive Clubbing of toes Otitis media with effusion Abnormality of the maxilla Seizures Abnormality of canine Abnormality of nail color Absent pubic hair Palmar hyperkeratosis Hidrotic ectodermal dysplasia Absent axillary hair Frontal bossing Short nose Pterygium Cerebellar hypoplasia Leukonychia Retrognathia Osteopenia Macrotia Polyhydramnios Hypogonadism Osteoporosis Fingernail dysplasia Trichodysplasia Amniotic constriction ring Sclerodactyly Congenital alopecia totalis Kyphosis Short neck Ventriculomegaly Talipes equinovarus Skeletal muscle atrophy Abnormal facial shape Trichorrhexis nodosa Wide mouth Small distal femoral epiphysis Dandy-Walker malformation Lissencephaly Joint contracture of the hand Abnormality of the hair Pachygyria Decreased fetal movement Ambiguous genitalia Sloping forehead Limb undergrowth Renal agenesis Subungual hyperkeratosis Muscle cramps Everted lower lip vermilion Thick vermilion border Pulmonary hypoplasia Polymicrogyria Micromelia Dystrophic fingernails Arthrogryposis multiplex congenita Muscular dystrophy Long face Meningeal calcification Malar flattening Hypoplasia of the maxilla Full cheeks Recurrent otitis media Osteoarthritis Bilateral sensorineural hearing impairment High myopia Otitis media Esotropia Gingival overgrowth Flat face Coxa valga Genu valgum Congenital cataract Platyspondyly Arthralgia Progressive hearing impairment Brachycephaly Depressivity Midface retrusion Hypohidrosis Microcornea Small proximal tibial epiphyses Lens luxation 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 Ulnar bowing Sparse eyebrow Anhidrotic ectodermal dysplasia Concave nasal ridge Hypoplastic ilia Thick upper lip vermilion Hypoplasia of the zygomatic bone Radial bowing Vitreoretinopathy Pierre-Robin sequence Thickened calvaria Midclavicular aplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Hernia, related diseases and genetic alterations Congestive heart failure and Posteriorly rotated ears, related diseases and genetic alterations Optic atrophy and Thin vermilion border, related diseases and genetic alterations Immunodeficiency and Astigmatism, related diseases and genetic alterations Cleft palate and Autoimmunity, related diseases and genetic alterations

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