Visual impairment, and Hypotrichosis

Diseases related with Visual impairment and Hypotrichosis

In the following list you will find some of the most common rare diseases related to Visual impairment and Hypotrichosis 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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Low match ICHTHYOSIS-HYPOTRICHOSIS SYNDROME


Ichthyosis-hypotrichosis syndrome is characterised by congenital ichthyosis and hypotrichosis. It has been described in three members of a consanguineous Arab Israeli family. The syndrome is transmitted as an autosomal recessive trait and is caused by a missense mutation in the ST14 gene, encoding the recently identified protease, matriptase. Analysis of skin samples from the patients suggests that this enzyme plays a role in epidermal desquamation.

ICHTHYOSIS-HYPOTRICHOSIS SYNDROME Is also known as ifah syndrome|ichthyosis-follicular atrophoderma-hypotrichosis syndrome|ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome|ihs|hypotrichosis-congenital ichthyosis syndrome

Related symptoms:

  • Hypotrichosis
  • Ichthyosis


SOURCES: ORPHANET MENDELIAN

More info about ICHTHYOSIS-HYPOTRICHOSIS SYNDROME

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 BIOTINIDASE DEFICIENCY


Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.

BIOTINIDASE DEFICIENCY Is also known as multiple carboxylase deficiency, late-onset|multiple carboxylase deficiency, juvenile-onset|btd deficiency|late-onset multiple carboxylase deficiency|juvenile-onset multiple carboxylase deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BIOTINIDASE DEFICIENCY

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 ODONTO-ONYCHO-DERMAL DYSPLASIA


Odonto-onycho-dermal dysplasia is a form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.

ODONTO-ONYCHO-DERMAL DYSPLASIA Is also known as oodd

Related symptoms:

  • Intellectual disability
  • Hyperhidrosis
  • Photophobia
  • Erythema
  • Sparse hair


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ODONTO-ONYCHO-DERMAL DYSPLASIA

Low match ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11


Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B ) (Oji et al., 2010).NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006).In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005).For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (OMIM ).

ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11 Is also known as arih|ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis|ichthyosis with hypotrichosis, autosomal recessive|ifah

Related symptoms:

  • Flexion contracture
  • Abnormality of the dentition
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MESH MENDELIAN

More info about ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11; ARCI11

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

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

Symptoms // Phenotype % cases
Alopecia Common - Between 50% and 80% cases
Nail dystrophy Uncommon - Between 30% and 50% cases
Sparse hair Uncommon - Between 30% and 50% cases
Ectodermal dysplasia Uncommon - Between 30% and 50% cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hyperhidrosis Sparse scalp hair Erythema Sparse and thin eyebrow Visual loss Short stature Dry skin Ichthyosis Hypohidrosis Sparse body hair Failure to thrive Absent eyebrow Photophobia Blepharitis Hyperkeratosis

Rare Symptoms - Less than 30% cases


Splenomegaly Intellectual disability Congenital nonbullous ichthyosiform erythroderma Subungual hyperkeratosis Eclabion High myopia Selective tooth agenesis Carious teeth Nystagmus Conjunctivitis Inflammatory abnormality of the skin Diarrhea Aplasia cutis congenita Hearing impairment Orthokeratosis Lethargy Corneal erosion Sensorineural hearing impairment Ataxia Abnormality of dental morphology Hepatomegaly Myopia Desquamation of skin soon after birth Congenital ichthyosiform erythroderma Nail dysplasia Strabismus Fine hair Macular degeneration Palmoplantar keratoderma Sparse eyelashes Flexion contracture Scarring Pili torti Epidermal acanthosis Palmoplantar hyperkeratosis Brittle hair Macular dystrophy Ectropion Erythroderma Anhidrosis Camptodactyly Palmoplantar hyperhidrosis Abnormality of the eye Conical incisor Retinopathy Abnormality of primary teeth Smooth tongue Syndactyly Persistence of primary teeth Corneal opacity Aganglionic megacolon Curly hair Generalized hypotrichosis Hypertelorism Decreased biotinidase activity Micrognathia Plantar hyperkeratosis Abnormality of retinal pigmentation Dry hair Keratitis Widely spaced teeth Cataract Ectrodactyly Hypodontia Neoplasm of the skin Oligodontia Joint contracture of the hand Reduced number of teeth Epiphora Finger syndactyly Anonychia Agenesis of permanent teeth Anodontia Dystrophic toenail Dystrophic fingernails Hypergranulosis Abnormality of vision Split hand Microdontia Cleft palate Genu valgum Low-set ears Anhidrotic ectodermal dysplasia Coxa valga Ectopia lentis Sparse eyebrow Thickened calvaria Pierre-Robin sequence Vitreoretinopathy Radial bowing Hypoplasia of the zygomatic bone Thick upper lip vermilion Hypoplastic ilia Concave nasal ridge Ulnar bowing Recurrent otitis media Lens luxation Absent frontal sinuses Hypoplastic frontal sinuses Abnormal vitreous humor morphology Calcification of falx cerebri Macrodontia of permanent maxillary central incisor Irregular proximal tibial epiphyses Irregular distal femoral epiphysis Wide tufts of distal phalanges Small proximal tibial epiphyses Meningeal calcification Amblyopia Osteoarthritis High palate Brachycephaly Depressed nasal bridge Epicanthus Wide nasal bridge Frontal bossing Abnormality of the skeletal system Anteverted nares Short nose Long philtrum Malar flattening Midface retrusion Depressivity Glaucoma Thick lower lip vermilion Proptosis Arthralgia Platyspondyly Congenital cataract Metabolic ketoacidosis Flat face Retinal detachment Hypoplasia of the maxilla Bifid uvula Esotropia Otitis media Cerebral calcification Perioral eczema Skin rash Laryngeal stridor Weight loss Skin vesicle Fragile skin Ankyloglossia Esophageal stricture Oral mucosal blisters Abnormality of the anus Mitten deformity Tremor Hypogonadism Cerebral cortical atrophy Irritability Milia Malabsorption Decreased testicular size Abnormal blistering of the skin Chronic diarrhea Anorexia Skin ulcer Psoriasiform dermatitis Emotional lability Steatorrhea Poor appetite Atrophic scars Squamous cell carcinoma Alopecia of scalp Abnormality of limb bone morphology Blindness Reduced visual acuity Skeletal dysplasia Retinal dystrophy Abnormality of the nail Cone/cone-rod dystrophy Melanocytic nevus Freckling Abnormality of macular pigmentation Immunologic hypersensitivity Everted lower lip vermilion Abnormality of the hair Limitation of joint mobility Eosinophilia Parakeratosis Lack of skin elasticity Cicatricial lagophthalmos Anemia Feeding difficulties Dysphagia Constipation Narrow mouth Delayed puberty Pustule Abnormal eyebrow morphology Diffuse cerebellar atrophy Stridor Lactic acidosis Metabolic acidosis Coma Abnormal cerebellum morphology Generalized myoclonic seizures Aciduria Tachypnea Hyperammonemia Recurrent skin infections Urticaria Visual field defect Feeding difficulties in infancy Infantile spasms Basal ganglia calcification Bronchitis Iris hypopigmentation Hyperventilation Diffuse cerebral atrophy Organic aciduria Seborrheic dermatitis Alcoholism Keratoconjunctivitis Recurrent fungal infections Developmental regression Apnea Furrowed tongue Increased serum zinc Ridged nail Cheilitis Impaired T cell function Decreased testosterone in males Glossitis Ridged fingernail Paronychia Decreased taste sensation Recurrent candida infections Low alkaline phosphatase Seizures Abnormality of the nervous system Global developmental delay Generalized hypotonia Growth delay Muscle weakness Muscular hypotonia Spasticity Optic atrophy Vomiting Hypertonia Recurrent infections Acidosis Small distal femoral epiphysis



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