Visual impairment, and Alopecia

Diseases related with Visual impairment and Alopecia

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


Top matches:

Low match HYPOTRICHOSIS WITH JUVENILE MACULAR DEGENERATION


Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.

HYPOTRICHOSIS WITH JUVENILE MACULAR DEGENERATION Is also known as hypotrichosis with juvenile macular dystrophy|hypotrichosis with cone-rod dystrophy|hjmd

Related symptoms:

  • Short stature
  • Nystagmus
  • Blindness
  • Abnormality of the dentition
  • Alopecia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HYPOTRICHOSIS WITH JUVENILE MACULAR DEGENERATION

Low match SELF-IMPROVING COLLODION BABY


Self-healing collodion baby (SHCB) is a minor variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of a collodion membrane at birth that heals within the first weeks of life.

SELF-IMPROVING COLLODION BABY Is also known as shcb|self-improving congenital ichthyosis|self-healing collodion baby|ichthyosis congenita|desquamation of newborn|sici|collodion fetus|icr2|ichthyosis congenita ii|ichthyosis, lamellar, 1, formerly|li1, formerly|lamellar exfoliation of newborn|collodion

Related symptoms:

  • Failure to thrive
  • Flexion contracture
  • Visual loss
  • Alopecia
  • Hyperhidrosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SELF-IMPROVING COLLODION BABY

Low match RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE


Recessive dystrophic epidermolysis bullosa (RDEB)-generalized other, also known as RDEB non-Hallopeau-Siemens type, is a subtype of DEB (see this term) characterized by generalized cutaneous and mucosal blistering that is not associated with severe deformities.

RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE Is also known as generalized mitis rdeb|autosomal recessive dystrophic epidermolysis bullosa generalisata mitis|autosomal recessive dystrophic epidermolysis bullosa, generalized other|rdeb, generalized intermediate|rdeb-generalized other|rdeb, non-hallopeau-siemens type|r

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Dysphagia
  • Visual loss


SOURCES: ORPHANET MENDELIAN

More info about RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA, GENERALIZED INTERMEDIATE

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Other less relevant matches:

Low match ACRODERMATITIS ENTEROPATHICA


Acrodermatitis enteropathica (AE) is a rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.

ACRODERMATITIS ENTEROPATHICA Is also known as inherited zinc deficiency|aez|acrodermatitis enteropathica, zinc deficiency type

Related symptoms:

  • Short stature
  • Failure to thrive
  • Visual impairment
  • Alopecia
  • Cerebral cortical atrophy


SOURCES: ORPHANET MENDELIAN

More info about ACRODERMATITIS ENTEROPATHICA

Low match ALG6-CDG


ALG6-CDG is a form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).

ALG6-CDG Is also known as cdg1c|cdg ic|cdgs5, formerly|cdg-ic|carbohydrate-deficient glycoprotein syndrome, type i, with deficient glycosylation of dolichol-linked oligosaccharide, formerly|cdgic|congenital disorder of glycosylation type 1c|carbohydrate-deficient glycoprotein synd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ALG6-CDG

Low match RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME


SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Low match BENIGN CHRONIC PEMPHIGUS; BCPM


Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Low match SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA


Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.

SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA Is also known as rdeb, hallopeau-siemens type|severe generalized rdeb|dystrophic epidermolysis bullosa, autosomal recessive|rdeb generalisata gravis|epidermolysis bullosa dystrophica, hallopeau-siemens type|rdeb-sev gen|autosomal recessive dystrophic epidermolysis bullosa

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cataract
  • Anemia
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE GENERALIZED RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

Low match ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ


Related symptoms:

  • Short stature
  • Ataxia
  • Failure to thrive
  • Visual impairment
  • Hepatomegaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE; AEZ

Low match KERATOSIS FOLLICULARIS SPINULOSA DECALVANS


Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.

KERATOSIS FOLLICULARIS SPINULOSA DECALVANS Is also known as keratosis follicularis spinulosa decalvans cum ophiasi

Related symptoms:

  • Myopia
  • Alopecia
  • Hyperkeratosis
  • Photophobia
  • Scarring


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KERATOSIS FOLLICULARIS SPINULOSA DECALVANS

Top 5 symptoms//phenotypes associated to Visual impairment and Alopecia

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Blepharitis Uncommon - Between 30% and 50% cases
Conjunctivitis Uncommon - Between 30% and 50% cases
Abnormal blistering of the skin Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Corneal erosion Dry skin Nail dystrophy Erythema Alopecia of scalp Hyperkeratosis Hypotrichosis Squamous cell carcinoma Visual loss Photophobia Ectropion Nail dysplasia Sparse hair Scarring Sparse scalp hair Intellectual disability Abnormality of the nail

Rare Symptoms - Less than 30% cases


Paronychia Mitten deformity Chronic diarrhea Edema Malabsorption Weight loss Cerebral cortical atrophy Abnormality of the anus Tremor Esophageal stricture Ankyloglossia Fragile skin Skin vesicle Atrophic scars Milia Anorexia Skin ulcer Ridged fingernail Global developmental delay Glossitis Cheilitis Corneal scarring Nystagmus Ridged nail Furrowed tongue Ataxia Abnormality of the dentition Scarring alopecia of scalp Abnormal eyebrow morphology Delayed puberty Pustule Strabismus Emotional lability Blindness Poor appetite Carious teeth Ichthyosis Erythroderma Osteopenia Myopia Hypogonadism Narrow mouth Palmoplantar keratoderma Diarrhea Carcinoma Hyperhidrosis Flexion contracture Cataract Neoplasm Growth delay Corneal dystrophy Absent eyebrow Osteoporosis Feeding difficulties Dysphagia Anemia Eczema Constipation Dilated cardiomyopathy Congenital hypothyroidism Acantholysis Lamellar cataract Acrokeratosis Broad columella Wide nasal base Poikiloderma Broad distal phalanx of finger Cardiomyopathy Osteosarcoma Concave nasal ridge Postnatal growth retardation Pain Skin rash Frontal bossing Vomiting Telangiectasia Melanoma Cutaneous photosensitivity Prominent forehead Basal cell carcinoma Severe vision loss Overgrowth Hypopigmentation of the skin Striae distensae Abnormality of skin pigmentation Leukemia Syndactyly Fine hair Pruritus Sparse and thin eyebrow Steatorrhea Impaired T cell function Decreased testosterone in males Decreased taste sensation Recurrent candida infections Low alkaline phosphatase Increased serum zinc Retinal detachment Sparse eyelashes Inflammatory abnormality of the skin Keratitis Follicular hyperkeratosis Dystrophic fingernails Entropion Facial erythema Folliculitis Punctate keratitis Perifollicular fibrosis Psoriasiform dermatitis Decreased testicular size Toe syndactyly Squamous cell carcinoma of the skin Progressive visual loss Hypoplasia of dental enamel Joint contracture of the hand Neoplasm of the skin Dermal atrophy Hypoalbuminemia Malnutrition Atypical scarring of skin Broad thumb Lethargy Absent toenail Absent fingernail Refractory anemia Loss of eyelashes Esophageal stenosis Spontaneous esophageal perforation Hepatomegaly Splenomegaly Irritability Progressive hearing impairment Reduced antithrombin III activity Short palpebral fissure Reduced visual acuity Subungual hyperkeratosis Eclabion Desquamation of skin soon after birth Cicatricial lagophthalmos Abnormality of the hair Aplasia cutis congenita Skeletal dysplasia Oral mucosal blisters Abnormal eyelid morphology Lack of skin elasticity Abnormality of the tongue Generalized abnormality of skin Seizures Generalized hypotonia Muscular hypotonia Dysarthria Intellectual disability, severe Recurrent infections Congenital nonbullous ichthyosiform erythroderma Parakeratosis Agenesis of corpus callosum Immunologic hypersensitivity Macular degeneration Cone/cone-rod dystrophy Brittle hair Melanocytic nevus Macular dystrophy Freckling Pili torti Abnormality of macular pigmentation Abnormality of limb bone morphology Congenital ichthyosiform erythroderma Ectodermal dysplasia Retinal dystrophy Everted lower lip vermilion Limitation of joint mobility Epidermal acanthosis Palmoplantar hyperkeratosis Eosinophilia Anhidrosis Areflexia Hypoglycemia Delayed myelination Posteriorly rotated ears Hypertension Brachydactyly Anteverted nares Cerebellar atrophy Intellectual disability, mild Short nose Long philtrum Rod-cone dystrophy Upslanted palpebral fissure Delayed speech and language development Diabetes mellitus Glaucoma Hypothyroidism High forehead Thin upper lip vermilion Deeply set eye Low-set, posteriorly rotated ears Broad nasal tip Motor delay Low-set ears Muscular hypotonia of the trunk Partial agenesis of the corpus callosum Hypermetropia Dysmetria Hepatic failure Intention tremor Broad-based gait Cerebral visual impairment Abnormal intestine morphology Polycystic ovaries Hyperinsulinemic hypoglycemia Abnormal facial shape Protein-losing enteropathy Type I transferrin isoform profile Frontal balding Increased serum testosterone level Reduced factor XI activity Elevated serum transaminases during infections Hearing impairment Sensorineural hearing impairment Ichthyosis follicularis



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