Failure to thrive, and Alopecia

Diseases related with Failure to thrive and Alopecia

In the following list you will find some of the most common rare diseases related to Failure to thrive and Alopecia 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

TCR-alpha-beta-positive T-cell deficiency is a rare, hereditary primary immunodeficiency characterized by recurrent respiratory tract infection, otitis media, candidiasis, diarrhea, as well as various signs and symptoms of immune dysregulation (hypereosinophilia, eczema, vitiligo, alopecia areata, autoimmune hemolytic anemia, pityriasis rubra pilaris). Failure to thrive, moderate lymphadenopathy and hepatomegaly have also been reported.

TCR-ALPHA-BETA-POSITIVE T-CELL DEFICIENCY Is also known as tcr-alpha/beta deficiency|tcr-alpha-beta+ t-cell deficiency|imd7|immunodeficiency 7

Related symptoms:

  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about TCR-ALPHA-BETA-POSITIVE T-CELL DEFICIENCY

Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering.

EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY Is also known as mcgrath syndrome|ectodermal dysplasia-skin fragility syndrome

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX DUE TO PLAKOPHILIN DEFICIENCY

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

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

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

Argininosuccinic aciduria (ASA) is a disorder of urea cycle metabolism most commonly characterized by either a severe, neonatal-onset form that manifests with hyperammonemia accompanied with vomiting, hypothermia, lethargy and poor feeding in the first few days of life, or late-onset forms (any age outside the newborn period) that manifest with stress or infection-induced episodic hyperammonemia or, in some, behavioral abnormalities and/or learning disabilities. Patients often manifest liver dysfunction.

ARGININOSUCCINIC ACIDURIA Is also known as argininosuccinic acid lyase deficiency|asa deficiency|argininosuccinase deficiency|argininosuccinatelyase deficiency|argininosuccinate lyase deficiency|asl deficiency

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ARGININOSUCCINIC ACIDURIA

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

Top 5 symptoms//phenotypes associated to Failure to thrive and Alopecia

Symptoms // Phenotype % cases
Nail dystrophy Common - Between 50% and 80% cases
Palmoplantar keratoderma Uncommon - Between 30% and 50% cases
Hypotrichosis Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Erythema Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Corneal erosion Abnormality of the nail Abnormal blistering of the skin Dry skin Hyperkeratosis Carious teeth Intellectual disability Nail dysplasia Fragile skin Scarring

Rare Symptoms - Less than 30% cases

Ataxia Ichthyosis Everted lower lip vermilion Epidermal acanthosis Ectropion Erythroderma Absent eyebrow Paronychia Anhidrosis Congenital ichthyosiform erythroderma Esophageal stricture Lack of skin elasticity Growth delay Ankyloglossia Seizures Mitten deformity Global developmental delay Eclabion Anemia Feeding difficulties Constipation Narrow mouth Visual loss Abnormality of the hair Milia Atrophic scars Aplasia cutis congenita Congenital nonbullous ichthyosiform erythroderma Subungual hyperkeratosis Flexion contracture Palmoplantar hyperkeratosis Immunodeficiency Hyperhidrosis Pruritus Furrowed tongue Chronic diarrhea Skin ulcer Woolly hair Scaling skin Skin vesicle Dilated cardiomyopathy Blepharitis Abnormal eyebrow morphology Feeding difficulties in infancy Vomiting Encephalopathy Hyperactivity EEG abnormality Abnormality of the liver Irritability Lethargy Coma Attention deficit hyperactivity disorder Hepatomegaly Cirrhosis Edema Laryngeal stenosis Hypertension Pyloric stenosis Dyspnea Sepsis Dehydration Hypoplasia of dental enamel Hoarse voice Recurrent skin infections Onycholysis Cognitive impairment Squamous cell carcinoma of the skin Skin erosion Febrile seizures Laryngeal stridor Congenital localized absence of skin Junctional split Aciduria Keratitis Hypergranulosis Episodic ammonia intoxication Trichorrhexis nodosa Dry hair Cerebral edema Abnormal hair quantity Alkalosis Oroticaciduria Osteoporosis Increased reactive oxygen species production Hyperventilation Respiratory alkalosis Hypoargininemia Brittle hair Protein avoidance Hyperglutaminemia Hyperammonemia Short finger Hearing impairment Tachypnea Abnormality of the pinna Paralysis Eczema Small nail Open mouth Intellectual disability, progressive Aminoaciduria Hypohidrosis Short toe External genital hypoplasia Hepatic fibrosis Decreased liver function Respiratory failure Absent speech Syndactyly Immune dysregulation Oral mucosal blisters Squamous cell carcinoma Delayed puberty Dysphagia Cicatricial lagophthalmos Desquamation of skin soon after birth Parakeratosis Eosinophilia Limitation of joint mobility Absent eyelashes Epiphora Ectodermal dysplasia Alopecia areata Vitiligo Microcephaly Otitis media Lymphadenopathy Autoimmunity Respiratory tract infection Hepatosplenomegaly Recurrent respiratory infections Recurrent infections Diarrhea Palmoplantar keratosis with erythema and scale Diffuse palmoplantar keratoderma Acantholysis Sparse eyelashes Sparse and thin eyebrow Abnormality of the cardiovascular system Abnormality of the anus Scoliosis Respiratory insufficiency Weight loss Generalized abnormality of skin Ridged fingernail Glossitis Cheilitis Abnormality of the tongue Ridged nail Abnormal eyelid morphology Pustule Poor appetite Emotional lability Conjunctivitis Anorexia Malabsorption Photophobia Cerebral cortical atrophy Low-set ears Visual impairment Oral leukoplakia CNS hypomyelination Bone marrow hypocellularity Fine hair Intellectual disability, profound Pancytopenia Abnormality of skin pigmentation Sparse hair Cerebellar hypoplasia Cardiomyopathy Midface retrusion Hypertonia Intrauterine growth retardation Thin nail


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