Failure to thrive, and Nail dystrophy

Diseases related with Failure to thrive and Nail dystrophy

In the following list you will find some of the most common rare diseases related to Failure to thrive and Nail dystrophy that can help you solving undiagnosed cases.

Top matches:

Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.

SKIN FRAGILITY-WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME Is also known as skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome

Related symptoms:

  • Failure to thrive
  • Cardiomyopathy
  • Alopecia
  • Dilated cardiomyopathy
  • Nail dystrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SKIN FRAGILITY-WOOLLY HAIR-PALMOPLANTAR KERATODERMA SYNDROME

Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous group of disorders characterized by recurrent blistering and cleavage within basal keratinocytes. Most forms show autosomal dominant inheritance (see, e.g., {131800}, {131760}, and {131900}), but autosomal recessive inheritance has been described (Fine et al., 2008).

Related symptoms:

  • Neoplasm
  • Hyperkeratosis
  • Abnormality of skin pigmentation
  • Palmoplantar keratoderma
  • Abnormal blistering of the skin


SOURCES: ORPHANET OMIM MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1; EBSB1

Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.

EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE Is also known as epidermolysis bullosa simplex, herpetiformis|ebs, generalized severe|epidermolysis bullosa simplex, dowling-meara type

Related symptoms:

  • Failure to thrive
  • Feeding difficulties
  • Constipation
  • Nail dystrophy
  • Palmoplantar keratoderma


SOURCES: ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE

Other less relevant matches:

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

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

Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6

STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.

STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY Is also known as savi

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Recurrent respiratory infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about STING-ASSOCIATED VASCULOPATHY WITH ONSET IN INFANCY

Junctional epidermolysis bullosa, Herlitz-type is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blisters and extensive erosions, localized to the skin and mucous membranes.

JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE Is also known as epidermolysis bullosa letalis|junctional epidermolysis bullosa, herlitz type|junctional epidermolysis bullosa, herlitz-pearson type|jeb-herlitz type|jeb-h|epidermolysis bullosa junctionalis, herlitz type|epidermolysis bullosa, junctional, herlitz-pearson

Related symptoms:

  • Failure to thrive
  • Anemia
  • Feeding difficulties
  • Respiratory insufficiency
  • Syndactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE

Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.

CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA Is also known as ichthyosiform erythroderma, nonbullous congenital, 1, formerly|erythrodermic ichthyosis|non-bullous congenital ichthyosiform erythroderma|ncie1, formerly|cie|collodion baby, self-healing|ichthyosiform erythroderma, brocq congenital, nonbullous form, forme

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA

Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, pulmonary and liver fibrosis, and premature graying of the hair (summary by Armanios et al., 2005).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2

Top 5 symptoms//phenotypes associated to Failure to thrive and Nail dystrophy

Symptoms // Phenotype % cases
Alopecia Common - Between 50% and 80% cases
Palmoplantar keratoderma Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Milia Uncommon - Between 30% and 50% cases
Atrophic scars Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Nail dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Anemia Hyperkeratosis Nail dysplasia Feeding difficulties Esophageal stricture Erythema Carious teeth Skin vesicle Scarring Constipation Hypotrichosis Abnormal blistering of the skin Abnormality of skin pigmentation Dilated cardiomyopathy Short stature

Rare Symptoms - Less than 30% cases

Cerebellar hypoplasia Bone marrow hypocellularity Epidermal acanthosis Palmoplantar hyperkeratosis Ectropion Erythroderma Pulmonary fibrosis Anhidrosis Congenital ichthyosiform erythroderma Lack of skin elasticity Osteoporosis Subungual hyperkeratosis Congenital nonbullous ichthyosiform erythroderma Mitten deformity Eclabion Cardiomyopathy Narrow mouth Microcephaly Abnormality of the hair Global developmental delay Intellectual disability Everted lower lip vermilion Corneal erosion Ankyloglossia Aplasia cutis congenita Absent eyebrow Ichthyosis Squamous cell carcinoma of the skin Fragile skin Abnormality of the nail Pyloric stenosis Recurrent skin infections Leukopenia Oral mucosal blisters Visual loss Flexion contracture Interstitial pulmonary abnormality Urethral stricture Eczema Onycholysis Hoarse voice Hypoplasia of dental enamel Dehydration Sepsis Toenail dysplasia Dyspnea Increased antibody level in blood Respiratory failure Syndactyly Elevated erythrocyte sedimentation rate Ridged fingernail Aplastic anemia Fasciitis Malar rash Follicular hyperplasia Low-grade fever Antinuclear antibody positivity Myositis Raynaud phenomenon Pustule Thrombocytosis Respiratory insufficiency Pulmonary infiltrates Skin erosion Hypergranulosis Pruritus Hypohidrosis Paralysis Short toe Scaling skin Keratitis External genital hypoplasia Abnormality of the pinna Hearing impairment Short finger Junctional split Thin nail Aseptic necrosis Congenital localized absence of skin Diarrhea Laryngeal stridor Abnormality of the dentition Thrombocytopenia Open mouth Paronychia Chronic diarrhea Hepatic fibrosis Small nail Premature graying of hair Laryngeal stenosis Ataxia Cutis marmorata Dystrophic fingernails Parakeratosis Eosinophilia Limitation of joint mobility Dry skin Hyperhidrosis Hyperpigmentation of the skin Hypopigmentation of the skin Aplasia/Hypoplasia of the nails Palmar hyperkeratosis Thick nail Ridged nail Dystrophic toenail Cicatricial lagophthalmos Atypical scarring of skin Failure to thrive in infancy Abnormality of the fingernails Skin ulcer Neoplasm Palmoplantar keratosis with erythema and scale Diffuse palmoplantar keratoderma Acantholysis Woolly hair Sparse eyelashes Sparse and thin eyebrow Abnormality of the cardiovascular system Desquamation of skin soon after birth Dysphagia Tachypnea CNS hypomyelination Lymphopenia Telangiectasia Decreased body weight Abnormal lung morphology Skin rash Autoimmunity Joint stiffness Myalgia Arthralgia Recurrent respiratory infections Fever Oral leukoplakia Fine hair Delayed puberty Intellectual disability, profound Pancytopenia Sparse hair Absent speech Midface retrusion Hypertonia Intrauterine growth retardation Low-set ears Scoliosis Seizures Abnormality of the anus Squamous cell carcinoma Reticulated skin pigmentation


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