Growth delay, and Cutaneous photosensitivity

Diseases related with Growth delay and Cutaneous photosensitivity

In the following list you will find some of the most common rare diseases related to Growth delay and Cutaneous photosensitivity that can help you solving undiagnosed cases.

Top matches:

Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013). Genetic Heterogeneity of Dyschromatosis Universalis HereditariaDyschromatosis universalis hereditaria-2 (DUH2 ) maps to chromosome 12q21-q23. DUH3 (OMIM ) is caused by mutation in the ABCB6 gene (OMIM ) on chromosome 2q35.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypopigmentation of the skin
  • Cutaneous photosensitivity
  • Hypopigmented skin patches


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DYSCHROMATOSIS UNIVERSALIS HEREDITARIA

UV-sensitive syndrome-1 is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Horibata et al., 2004). Genetic Heterogeneity of UV-Sensitive SyndromeSee also UVSS2 (OMIM ), caused by mutation in the ERCC8 gene (OMIM ) on chromosome 5q12, and UVSS3 (OMIM ), caused by mutation in the UVSSA gene (OMIM ) on chromosome 4p16.

Related symptoms:

  • Growth delay
  • Neoplasm
  • Abnormality of the nervous system
  • Dry skin
  • Cutaneous photosensitivity


SOURCES: OMIM MENDELIAN

More info about UV-SENSITIVE SYNDROME 1; UVSS1

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. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008).For a discussion of genetic heterogeneity of TTD, see {601675}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Neoplasm
  • Cognitive impairment
  • Ichthyosis


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE; TTD2

Other less relevant matches:

Porokeratosis of Mibelli (PM) is a form of porokeratosis that is characterized by the presence of brown single or multiple annular plaques of varying size, that are sometimes confluent, with a distinctive sharply-defined keratotic border.

POROKERATOSIS OF MIBELLI Is also known as porokeratosis of mibelli

Related symptoms:

  • Short stature
  • Neoplasm
  • Diabetes mellitus
  • Hyperkeratosis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about POROKERATOSIS OF MIBELLI

COCKAYNE SYNDROME TYPE 3 Is also known as cockayne syndrome type iii

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 3

Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.

AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS Is also known as bullous congenital ichthyosiform erythroderma of brock|epidermolytic ichthyosis|bie|bullous congenital ichthyosiform erythroderma|ehk|bullous erythroderma ichthyosiformis congenita of brocq|bcie|bullous ichthyosiform erythroderma|ichthyosis hystrix brocq

Related symptoms:

  • Growth delay
  • Hyperhidrosis
  • Hyperkeratosis
  • Weight loss
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS

Xeroderma pigmentosum variant is a milder subtype of xeroderma pigmentosum (XP; see this term), a rare genetic photodermatosis characterized by severe sun sensitivity and an increased risk of skin cancer.

XERODERMA PIGMENTOSUM VARIANT Is also known as xeroderma pigmentosum with normal dna repair rates|photosensitivity with defective dna synthesis|xpv

Related symptoms:

  • Microcephaly
  • Growth delay
  • Photophobia
  • Dry skin
  • Hypopigmentation of the skin


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about XERODERMA PIGMENTOSUM VARIANT

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. Patients with TTD have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008).For a discussion of genetic heterogeneity of TTD, see {601675}.

TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3 Is also known as ttda|trichothiodystrophy, complementation group a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Neoplasm
  • Cataract
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE; TTD3

For a general description of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ). Complementation group G has one of the smallest series of cases (Arlett et al., 1980).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG Is also known as xp, group g|xpgc|xeroderma pigmentosum vii|xp7

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG

Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3

Top 5 symptoms//phenotypes associated to Growth delay and Cutaneous photosensitivity

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Neoplasm of the skin Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Cutaneous photosensitivity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Congenital cataract Ichthyosis Intellectual disability Telangiectasia Hearing impairment Freckling

Rare Symptoms - Less than 30% cases

Erythroderma Congenital nonbullous ichthyosiform erythroderma Tremor Spasticity Hypopigmentation of the skin Microphthalmia Global developmental delay Erythema Flexion contracture Squamous cell carcinoma Hyperkeratosis Tiger tail banding Intrauterine growth retardation Congenital ichthyosiform erythroderma Decreased fertility Dry skin Brittle hair Dermal atrophy Melanoma Keratitis Photophobia Basal cell carcinoma Abnormality of skin pigmentation Poikiloderma Hyperpigmentation of the skin Conjunctivitis Asthma Freckles in sun-exposed areas Cutaneous melanoma Ectropion Entropion Intention tremor Joint contracture of the hand Cleft palate Decreased fetal movement Brain atrophy Arthrogryposis multiplex congenita Cerebellar hypoplasia Edema Ventriculomegaly Talipes equinovarus Low-set ears Micrognathia Ataxia Defective DNA repair after ultraviolet radiation damage Bilateral microphthalmos Infantile spasms Broad-based gait Hypernatremic dehydration Small for gestational age Mental deterioration Pes cavus Conjunctival hamartoma Epidermal acanthosis Hypernatremia Cognitive impairment Abnormality of chromosome stability Prematurely aged appearance Aplasia/Hypoplasia of the skin Pruritus Carcinoma Diabetes mellitus Coarse hair Pigmentation anomalies of sun-exposed skin Failure to thrive Increased cellular sensitivity to UV light Abnormality of the nervous system Hyperpigmented/hypopigmented macules Spotty hypopigmentation Multiple cafe-au-lait spots Macule Hypermelanotic macule Hypopigmented skin patches Porokeratosis Carious teeth Congenital bullous ichthyosiform erythroderma Palmoplantar hyperkeratosis Generalized hyperkeratosis Disseminated intravascular coagulation Heat intolerance Poor appetite Fragile skin Skin vesicle Scaling skin Recurrent skin infections Skin ulcer Severe photosensitivity Dehydration Abnormal blistering of the skin Ectodermal dysplasia Sepsis Palmoplantar keratoderma Confusion Weight loss Hyperhidrosis Rocker bottom foot


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