Visual impairment, and Small nail

Diseases related with Visual impairment and Small nail

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

Top matches:

Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.

COFFIN-SIRIS SYNDROME 2; CSS2 Is also known as mrd14|mental retardation, autosomal dominant 14

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 2; CSS2

Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

BLEPHARO-CHEILO-ODONTIC SYNDROME Is also known as lagophthalmia with bilateral cleft lip and palate|clefting, ectropion, and conical teeth|ectropion, inferior, with cleft lip and/or palate|lagophthalmia-cleft lip and palate syndrome|bcd syndrome|blepharocheilodontic syndrome|elschnig syndrome|bcds|elschi

Related symptoms:

  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape
  • Cleft palate
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHARO-CHEILO-ODONTIC SYNDROME

Other less relevant matches:

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 ALG3-CDG

ALG3-CDG is a form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC, see this term), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). ALG3-CDG is caused by loss of function mutations of the gene ALG3 (3q27.3).

ALG3-CDG Is also known as cdgid|cdg id|cdgs, type iv, formerly|cdgs4, formerly|carbohydrate-deficient glycoprotein syndrome, type iv, formerly|congenital disorder of glycosylation type id|congenital disorder of glycosylation type 1d|cdg syndrome type id|cdg-id|mannosyltransferase

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALG3-CDG

Low match KID SYNDROME

Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.

KID SYNDROME Is also known as ichthyosis hystrix rheydt type|keratitis-ichthyosis-deafness/hystrix-like ichthyosis-deafness syndrome|senter syndrome|kid/hid syndrome|kid syndrome, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about KID SYNDROME

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

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

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

Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

Top 5 symptoms//phenotypes associated to Visual impairment and Small nail

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Brachydactyly Sparse hair Blindness Generalized hypotonia Seizures Strabismus Wide nasal bridge Optic atrophy Nail dysplasia Abnormal facial shape High forehead Bulbous nose Delayed speech and language development Low-set ears Micrognathia Delayed skeletal maturation Cleft palate Agenesis of corpus callosum Downslanted palpebral fissures Muscular hypotonia of the trunk Hypertonia Cerebral atrophy Feeding difficulties Intrauterine growth retardation Epicanthus Photophobia Severe global developmental delay Muscular hypotonia Abnormality of the dentition Syndactyly Clinodactyly Nail dystrophy Depressed nasal bridge Cryptorchidism Alopecia Cataract Hearing impairment Macrotia Finger syndactyly Short distal phalanx of finger Carious teeth Fine hair

Rare Symptoms - Less than 30% cases

Congenital cataract Cutaneous syndactyly Myopia Clinodactyly of the 5th finger Abnormality of vision Bilateral single transverse palmar creases High anterior hairline High myopia Skin ulcer Abnormality of the fingernails Sensorineural hearing impairment Conjunctivitis Sparse eyelashes Hyperkeratosis Hyperhidrosis Cerebellar hypoplasia Scaling skin Abnormal heart morphology Abnormality of the nervous system Growth delay Clinodactyly of the 5th toe Hypoplastic toenails Hypsarrhythmia Spasticity Hypodontia Single transverse palmar crease Cerebellar atrophy Hypoplasia of the corpus callosum Sparse and thin eyebrow High palate Flexion contracture Failure to thrive Ectodermal dysplasia Palmoplantar keratoderma Intellectual disability, moderate Abnormality of the eye Low anterior hairline Macrocephaly Sparse scalp hair Neoplasm Posteriorly rotated ears Underdeveloped nasal alae Frontal bossing Ventricular septal defect Wide nose Hypertrichosis Wide mouth Abnormality of the pinna Thick eyebrow Coarse facial features Anteverted nares Short neck Anal atresia Abnormality of cardiovascular system morphology Long eyelashes Cutis marmorata telangiectatica congenita Retinal nonattachment Irregular hyperpigmentation Wide anterior fontanel Lymphedema Narrow palpebral fissure Cerebral palsy Generalized hyperpigmentation Dermal atrophy Cutis marmorata Short finger Aplasia cutis congenita Corpus callosum atrophy High-pitched cry Clubbing Hypotrichosis Cognitive impairment Hyperpigmentation of the skin Aplasia cutis congenita of scalp Retinal fold Adactyly Hand polydactyly Brittle hair Retrocerebellar cyst Palmoplantar hyperkeratosis Periventricular leukomalacia Flat face Blue sclerae Renal agenesis Anonychia Triphalangeal thumb Abnormal dermatoglyphics Short phalanx of finger Bilateral sensorineural hearing impairment Dandy-Walker malformation Abnormality of the skin Severe sensorineural hearing impairment Prominent nose Polyneuropathy Everted lower lip vermilion Downturned corners of mouth Respiratory tract infection Neonatal hypotonia Recurrent respiratory infections Infantile spasms Hypoplasia of the iris Oligohydramnios Protruding ear Wide intermamillary distance Fragile nails Gliosis Short foot Retinal detachment Polymicrogyria Deeply set eye Cystic renal dysplasia Depressivity Dilatation Microphthalmia Hydrocephalus Ventriculomegaly Profound sensorineural hearing impairment Prominent nasal tip Blepharitis Craniofacial hyperostosis Fair hair Generalized hirsutism Supernumerary nipple Short middle phalanx of finger Mutism Widely spaced teeth Short chin Finger clinodactyly Postnatal microcephaly Aphasia Decreased body weight Ambiguous genitalia Microdontia Specific learning disability Limitation of joint mobility Hirsutism Dysphasia Narrow nasal bridge Smooth philtrum Cutaneous syndactyly of toes Frontal hirsutism Enlarged epiphyses Aplastic/hypoplastic toenail Narrow naris Anteverted ears Congenital microcephaly Broad columella Abnormality of digit Echolalia Low hanging columella Narrow nose Limb hypertonia Limb dystonia Cutaneous finger syndactyly Thin vermilion border Paraplegia Sparse axillary hair Abnormal nasolacrimal system morphology Palmar hyperkeratosis Hidrotic ectodermal dysplasia Absent axillary hair Clubbing of toes Hyperconvex nail Hypohidrotic ectodermal dysplasia Slow-growing hair Abnormality of nail color Alopecia totalis Malar flattening Thick nail Onycholysis Sparse pubic hair Clubbing of fingers Absent pubic hair Abnormality of the skeletal system Toe syndactyly Postnatal growth retardation Synophrys Neurological speech impairment Small for gestational age Broad forehead Prominent nasal bridge Short philtrum Thin upper lip vermilion Atrial septal defect Proptosis Polydactyly Brachycephaly Prominent forehead Severe short stature Dystonia Intellectual disability, severe Hyporeflexia Recurrent bacterial skin infections Long philtrum Highly arched eyebrow Convex nasal ridge Hypoplasia of penis Abnormal corpus callosum morphology Polycystic ovaries Non-midline cleft lip Microcytic anemia Iron deficiency anemia Increased serum ferritin Abnormality of the elbow Ectopic anus Nuclear cataract Pulverulent cataract Thick lower lip vermilion Macroglossia Thick vermilion border Shortening of all distal phalanges of the fingers Arthrogryposis multiplex congenita Cerebral visual impairment Recurrent infections Bifid uvula Iris coloboma Constipation Arachnodactyly Coloboma Hyperreflexia Pectus excavatum Absent speech Diarrhea Poor speech Vomiting Talipes equinovarus Webbed neck Aplasia/Hypoplasia of the distal phalanges of the hand Adducted thumb Vertebral fusion Abnormal hair quantity Conical tooth Bilateral cleft lip and palate Myelomeningocele Abnormal eyelid morphology Bilateral cleft lip Overfolded helix Unilateral cleft lip Ectropion Reduced number of teeth Oligodontia Cleft upper lip Opacification of the corneal stroma Choanal atresia Distichiasis Epidermoid cyst Joint stiffness Hypothyroidism Low-set, posteriorly rotated ears Prominent interphalangeal joints Absent fifth toenail Absent fifth fingernail Anemia Upslanted palpebral fissure Conductive hearing impairment Meningoencephalocele Cleft lip Multiple rows of eyelashes Euryblepharon Dermoid cyst Ectropion of lower eyelids Thyroid agenesis Joint contracture of the hand Long fingers Respiratory distress Furrowed tongue Congenital sensorineural hearing impairment Keratitis Absent eyebrow Hemiplegia/hemiparesis Squamous cell carcinoma Aplasia/Hypoplasia of the eyebrow Macule Cellulitis Severe hearing impairment Keratoconjunctivitis sicca Alopecia of scalp Abnormal eyelash morphology Corneal erosion Dystrophic toenail Hypoplastic fingernail Urticaria Oral cleft Peripheral neuropathy Abnormality of corneal stroma Trichiasis Moderate hearing impairment Corneal ulceration Generalized hyperkeratosis Corneal scarring Oral leukoplakia Keratoconjunctivitis Squamous cell carcinoma of the skin Abnormality of the tongue Recurrent corneal erosions Corneal neovascularization Dystrophic fingernails Rod-cone dystrophy Reduced tendon reflexes Hypoplastic nipples Pain Horseshoe kidney Congenital blindness Pes cavus Metaphyseal chondrodysplasia Ptosis Visual loss Motor delay Arthritis Food intolerance Type I transferrin isoform profile Portal fibrosis Decreased light- and dark-adapted electroretinogram amplitude Villous atrophy Severe vision loss Carcinoma Erythema Neoplasm of the skin Hypohidrosis Osteolysis Craniosynostosis Knee flexion contracture Elbow flexion contracture Nyctalopia Retinal degeneration Thickened skin Scarring Aganglionic megacolon Renal cyst Progressive visual loss Delayed eruption of teeth Short metacarpal Ichthyosis 2-4 toe syndactyly


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