Cataract, and Small nail

Diseases related with Cataract and Small nail

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


Top matches:

Low match NAIL-PATELLA SYNDROME


Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.

NAIL-PATELLA SYNDROME Is also known as turner-kieser syndrome|onychoosteodysplasia

Related symptoms:

  • Hearing impairment
  • Cataract
  • Hypertension
  • Renal insufficiency
  • Glaucoma


SOURCES: ORPHANET MENDELIAN

More info about NAIL-PATELLA 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

Low match CRONKHITE-CANADA SYNDROME


Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

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Other less relevant matches:

Low match TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4


Trichothiodystrophy 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 (summary by Faghri et al., 2008).Sabinas brittle hair syndrome (OMIM ) is another form of nonphotosensitive TTD.For a discussion of genetic heterogeneity of trichothiodystrophy, see {601675}.

TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4 Is also known as trichothiodystrophy-neurocutaneous syndrome|pollitt syndrome|abhs|trichothiodystrophy, nonphotosensitive 1|bids syndrome|ttdn1|amish brittle hair brain syndrome|hair-brain syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE; TTD4

Low match AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME


Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME

Low match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

Low match FIBROCHONDROGENESIS


Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

Low match DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS


The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Low match ADAMS-OLIVER SYNDROME 2; AOS2


Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

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

Top 5 symptoms//phenotypes associated to Cataract and Small nail

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Small nail. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Growth delay Microphthalmia Nail dysplasia Nail dystrophy Alopecia Strabismus Myopia High myopia Seizures Hypoplastic toenails Abnormality of the fingernails Cognitive impairment Optic atrophy Epicanthus Brittle hair Low-set ears Sparse hair Photophobia Generalized hypotonia Brachydactyly Delayed speech and language development Anteverted nares Micrognathia Congenital cataract Anemia Intrauterine growth retardation Macrocephaly Flexion contracture

Rare Symptoms - Less than 30% cases


Abnormal heart morphology Cerebral atrophy Neoplasm Nystagmus Hypocalcemia Depressed nasal bridge Short distal phalanx of finger Edema Long philtrum Malabsorption Lymphedema Short nose Bulbous nose Abnormality of the nervous system Hypogonadism Short foot Visual impairment Small for gestational age Severe short stature Cleft palate Tiger tail banding Trichorrhexis nodosa Corneal neovascularization Woolly hair Keratoconjunctivitis sicca Wide anterior fontanel Wide nasal bridge Agenesis of corpus callosum Protruding ear Macular degeneration Microcornea Downslanted palpebral fissures Ichthyosis Retrognathia Macrotia Increased bone mineral density Short neck Clinodactyly of the 5th finger Decreased fertility Syndactyly Joint stiffness Carious teeth Concave nail Fragile nails Sparse eyelashes Hyperpigmentation of the skin Abnormality of the elbow Clubbing of fingers Skeletal dysplasia Fine hair Hyperkeratosis Generalized hyperpigmentation Clubbing Anterior rib cupping Long clavicles Hypoplastic ischia Gliosis Abnormal diaphysis morphology Broad long bones Broad ribs Bifid tongue Hypoplastic fingernail Hypoplastic scapulae Hearing abnormality Metaphyseal cupping Spastic diplegia Narrow greater sacrosciatic notches Erythroderma Dysphonia Abnormality of the thorax Sensorineural hearing impairment Widely patent sagittal suture Posterior vertebral hypoplasia Widely patent coronal suture Pear-shaped vertebrae Thin clavicles Intestinal obstruction Broad ischia Dumbbell-shaped long bone Posterior rib cupping Squamous cell carcinoma Megalocornea Bell-shaped thorax Thin ribs Protuberant abdomen Narrow chest Limb undergrowth Round face Congenital nonbullous ichthyosiform erythroderma Small hand Short palm Flat face Micromelia Platyspondyly Abnormality of the metaphysis Pectus carinatum Camptodactyly of finger Titubation Abnormality of hair texture Abnormality of the pinna Camptodactyly Jerky ocular pursuit movements Proptosis Abnormality of the ribs Abnormal form of the vertebral bodies Fibular hypoplasia Joint contracture of the hand Muscular hypotonia Thoracic hypoplasia Basal cell carcinoma Patent foramen ovale Short long bone Plagiocephaly Short ribs Hydrops fetalis Omphalocele Freckling Congenital ichthyosiform erythroderma Hyperactive deep tendon reflexes Alopecia of scalp IgG deficiency Progeroid facial appearance Pili torti Rhizomelia Telangiectasia Cutaneous photosensitivity High palate Cutis marmorata Profound sensorineural hearing impairment Dermal atrophy Prominent nasal tip Cystic renal dysplasia Hypoplasia of the iris Severe sensorineural hearing impairment Infantile spasms Ventriculomegaly Anonychia Triphalangeal thumb Abnormal dermatoglyphics Short phalanx of finger Hypsarrhythmia Bilateral sensorineural hearing impairment Dandy-Walker malformation Spasticity Hypoplasia of the corpus callosum Abnormality of the skin Blue sclerae Retinal detachment Polymicrogyria Wide intermamillary distance Muscular hypotonia of the trunk Deeply set eye Oligohydramnios Posteriorly rotated ears Hydrocephalus Cerebellar hypoplasia Low anterior hairline Depressivity Narrow palpebral fissure Dilatation Cerebral palsy Hypertonia Renal agenesis Prominent nose Chronic diarrhea Respiratory distress Retinal nonattachment Recurrent infections Blindness Areflexia Babinski sign Pneumonia Peripheral neuropathy Cutis marmorata telangiectatica congenita Dry skin Asthma Decreased antibody level in blood Eczema Single transverse palmar crease Feeding difficulties Abnormality of the face Adactyly High-pitched cry Polyneuropathy Neonatal hypotonia Everted lower lip vermilion Narrow mouth Short finger Aplasia cutis congenita Wide mouth Respiratory tract infection Coarse facial features Retrocerebellar cyst High forehead Recurrent respiratory infections Hyporeflexia Corpus callosum atrophy Periventricular leukomalacia Aplasia cutis congenita of scalp Retinal fold Downturned corners of mouth Thin long bone diaphyses Midface retrusion Hypohidrotic ectodermal dysplasia Absent pubic hair Palmar hyperkeratosis Hidrotic ectodermal dysplasia Absent axillary hair Clubbing of toes Hyperconvex nail Abnormal nasolacrimal system morphology Muscle weakness Slow-growing hair Alopecia totalis Craniofacial hyperostosis Thick nail Onycholysis Sparse pubic hair Sparse axillary hair Abnormality of nail color Pain Blepharitis Abnormality of skin pigmentation Aplasia/Hypoplasia of the eyebrow Hypoalbuminemia Hypokalemia Cachexia Abnormal intestine morphology Anorexia Tapered finger Paresthesia Hepatomegaly Autoimmunity Weight loss Abdominal pain Splenomegaly Diarrhea Vomiting Fatigue Fair hair Irregular hyperpigmentation Sparse body hair Osteoarthritis Patellar dislocation Exostoses Joint swelling Glomerulopathy Cubitus valgus Joint dislocation Vasculitis Nephrotic syndrome Abnormality of the lower limb Nephropathy Hematuria Joint hyperflexibility Proteinuria Glaucoma Renal insufficiency Hypertension Abnormal toenail morphology Abnormality of the upper limb Scaling skin Palmoplantar keratoderma Hand polydactyly Palmoplantar hyperkeratosis Conjunctivitis Skin ulcer Sparse and thin eyebrow Sparse scalp hair Ectodermal dysplasia Hypotrichosis Ridged nail Finger syndactyly Hyperhidrosis Abnormality of the dentition Thickening of the lateral border of the scapula Iliac horns Aplastic/hypoplastic toenail Aplasia/Hypoplasia of the patella Colon cancer Thromboembolism Malar flattening Congenital hypoparathyroidism Abnormal circulating follicle-stimulating hormone level Transient hypophosphatemia Retinal calcification Calvarial osteosclerosis Stenosis of the medullary cavity of the long bones Cortical thickening of long bone diaphyses Postnatal macrocephaly Thickened cortex of long bones Cryptorchidism Hypocalcemic tetany Hypocalcemic seizures Persistence of primary teeth Bilateral microphthalmos Delayed closure of the anterior fontanelle Tetany Decreased skull ossification Abnormality of the medullary cavity of the long bones Abnormality of cardiovascular system morphology Hypoparathyroidism Microcytic anemia Respiratory insufficiency Frontal bossing Pulverulent cataract Nuclear cataract Ectopic anus Increased serum ferritin Iron deficiency anemia Non-midline cleft lip Low-set, posteriorly rotated ears Polycystic ovaries Bilateral single transverse palmar creases Hypoplasia of penis Convex nasal ridge Webbed neck Anal atresia Severe global developmental delay Hyperphosphatemia Papilledema Xerostomia Stomach cancer Ataxia Decreased taste sensation Gastrointestinal carcinoma Glossitis Patchy alopecia Peripheral edema Hamartomatous polyposis Protein-losing enteropathy Cerebral cortical atrophy Intestinal polyposis Dystrophic fingernails Furrowed tongue Dystrophic toenail Hematochezia Hypomagnesemia Abnormality of the vasculature Ventricular septal defect Hypergonadotropic hypogonadism Proportionate short stature Hypermetropia Basal ganglia calcification High hypermetropia Delayed cranial suture closure High pitched voice Decreased testicular size Neutropenia Infertility Abnormality of the liver Severe muscular hypotonia Postnatal growth retardation Prominent forehead Delayed skeletal maturation Abnormal facial shape Failure to thrive Hypoplasia of teeth Partial agenesis of the corpus callosum Lack of subcutaneous fatty tissue



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