Feeding difficulties, and Hyperkeratosis

Diseases related with Feeding difficulties and Hyperkeratosis

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Hyperkeratosis that can help you solving undiagnosed cases.


Top matches:

Low match EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE


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

Low match HYPERCHLORHIDROSIS, ISOLATED; HYCHL


Isolated hyperchlorhidrosis is an autosomal recessive condition in which excessive salt wasting in sweat can result in severe infantile hyponatremic dehydration and hyperkalemia (summary by Muhammad et al., 2011).

Related symptoms:

  • Failure to thrive
  • Feeding difficulties
  • Dilatation
  • Abnormality of metabolism/homeostasis
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about HYPERCHLORHIDROSIS, ISOLATED; HYCHL

Low match ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR


Alacrima, achalasia, and mental retardation syndrome (AAMR) is an autosomal recessive disorder characterized by onset of these 3 main features at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome (OMIM ), but patients with AAMR do not have adrenal insufficiency (summary by Koehler et al., 2013).See also {300858} for a phenotypically similar disorder that shows X-linked inheritance.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME; AAMR

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Other less relevant matches:

Low match PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME


Palmoplantar keratoderma (PPK) is a complex group of hereditary syndromes that have been classified into diffuse, punctate, and focal forms according to the pattern of hyperkeratosis on the palms and soles (Lucker et al., 1994).For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (OMIM ).

PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME Is also known as howell-evans syndrome|keratosis palmaris et plantaris with esophageal cancer|palmoplantar hyperkeratosis-esophageal carcinoma syndrome|palmoplantar keratoderma with esophageal cancer|tylosis-oesophageal carcinoma syndrome|bennion-patterson syndrome|kerato

Related symptoms:

  • Neoplasm
  • Hepatomegaly
  • Dysphagia
  • Edema
  • Hernia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PALMOPLANTAR KERATODERMA-ESOPHAGEAL CARCINOMA SYNDROME

Low match FAMILIAL ISOLATED DILATED CARDIOMYOPATHY


Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated|cardiomyopathy, familial dilated, 1|cmpd1|familial or idiopathic dilated cardiomyopathy|fdc

Related symptoms:

  • Sensorineural hearing impairment
  • Feeding difficulties
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

Low match MPDU1-CDG


The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies.

MPDU1-CDG Is also known as congenital disorder of glycosylation type 1f|cdg syndrome type if|cdg-if|cdgif|cdg1f|carbohydrate deficient glycoprotein syndrome type if|congenital disorder of glycosylation type if|cdg if

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MPDU1-CDG

Low match CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME


CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME Is also known as congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cryptorchidism
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

Low match STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS


Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.

STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS Is also known as interleukin-1 receptor antagonist deficiency|interleukin 1 receptor antagonist deficiency|autoinflammatory disease due to interleukin-1 receptor antagonist deficiency|dira|ompp

Related symptoms:

  • Pain
  • Feeding difficulties
  • Hepatomegaly
  • Fever
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS

Low match CHRONIC MUCOCUTANEOUS CANDIDIASIS


Chronic mucocutaneous candidosis (CMC) refers to a group of heterogenous disorders characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.

CHRONIC MUCOCUTANEOUS CANDIDIASIS Is also known as card9 immunodeficiency|candidiasis, familial chronic mucocutaneous, autosomal recessive|cmc

Related symptoms:

  • Seizures
  • Fever
  • Behavioral abnormality
  • Immunodeficiency
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHRONIC MUCOCUTANEOUS CANDIDIASIS

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

Top 5 symptoms//phenotypes associated to Feeding difficulties and Hyperkeratosis

Symptoms // Phenotype % cases
Failure to thrive Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases
Epidermal acanthosis Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Cough Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Feeding difficulties and Hyperkeratosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Skin rash Palmoplantar keratoderma

Rare Symptoms - Less than 30% cases


Seizures Hepatomegaly Eczema Gastroesophageal reflux Carcinoma Erythema Palmoplantar hyperkeratosis Squamous cell carcinoma Abnormality of the mouth Follicular hyperkeratosis Diffuse palmoplantar hyperkeratosis Myopathy Growth delay Osteopenia Flexion contracture Visual impairment Abnormality of the eye Hyperhidrosis Dry skin Meningitis Abnormality of vision Scaling skin Inflammatory abnormality of the skin Respiratory insufficiency Recurrent respiratory infections Pain Fever Neoplasm Erythroderma Dysphagia Delayed speech and language development Intellectual disability Hypopigmentation of the skin Global developmental delay Abnormal blistering of the skin Nystagmus Strabismus Muscular hypotonia Dilatation Gastrostomy tube feeding in infancy Periostitis Fragile skin Joint swelling Pustule Thrombocytosis Stomatitis Fused cervical vertebrae Fetal distress Low-grade fever Cerebral vasculitis Chronic recurrent multifocal osteomyelitis Interstitial pulmonary abnormality Onychomadesis Behavioral abnormality Immunodeficiency Headache Recurrent infections Feeding difficulties in infancy Nail dystrophy Papule Pruritus Vertebral fusion Osteomyelitis Minicore myopathy Arthralgia Abnormal elasticity of skin Pes valgus Atrophic scars Milia Generalized joint laxity Overweight Respiratory distress Splenomegaly Recurrent skin infections Hyperpigmentation of the skin Leukocytosis Sepsis Neck muscle weakness Centrally nucleated skeletal muscle fibers Weak cry Vasculitis Spinal rigidity Hematuria Osteolysis Psoriasiform dermatitis Hyperostosis Lymphadenopathy Recurrent urinary tract infections Abnormality of the skin Cutaneous photosensitivity Abnormality of the dentition Alopecia Prominent forehead Osteoporosis Hypogonadism Postnatal growth retardation Sparse hair Leukemia Abnormality of skin pigmentation Overgrowth Sparse scalp hair Vomiting Telangiectasia Melanoma Basal cell carcinoma Striae distensae Severe vision loss Alopecia of scalp Osteosarcoma Poikiloderma Concave nasal ridge Acantholysis Lamellar cataract Diarrhea Frontal bossing Constipation Chronic mucocutaneous candidiasis Hepatitis Multiple joint contractures Skin ulcer Abnormality of the nail Abnormality of dental enamel Abnormality of the fingernails Abnormality of the immune system Abnormality of blood and blood-forming tissues Hemoptysis Abnormal toenail morphology Abnormal vagina morphology Cataract Lichenification Cheilitis Recurrent fungal infections Abnormal endocardium morphology Abnormality of temperature regulation Onychomycosis Abnormal lip morphology Dyspareunia Broad nail Chronic oral candidiasis Short stature Mildly elevated creatine phosphokinase Poor head control Increased variability in muscle fiber diameter Abnormality of esophagus physiology Oral leukoplakia Hypergranulosis Stomach cancer Esophageal stricture Plantar hyperkeratosis Clubbing of toes Abnormality of the mediastinum Renal salt wasting Esophageal neoplasm Esophageal carcinoma Abnormal large intestine morphology Esophagitis Esophageal leukoplakia Sensorineural hearing impairment Fatigue Ventriculomegaly Cardiomyopathy Hyperaldosteronism Congestive heart failure Arrhythmia Elevated serum creatine phosphokinase Dyspnea Pseudohypoaldosteronism Hiatus hernia Dilated cardiomyopathy Hernia Sensory impairment Hypotension Hypohidrosis Nasal speech Adrenal insufficiency Orthostatic hypotension Achalasia Alacrima Anisocoria Spasticity Weight loss Elevated sweat chloride Nausea and vomiting Postural instability Ascites Ectodermal dysplasia Gastrointestinal hemorrhage Hearing impairment Thickened skin Poor suck Oral-pharyngeal dysphagia Poor appetite Parakeratosis Stroke Syncope Congenital muscular dystrophy Skin vesicle Abnormality of metabolism/homeostasis Oral mucosal blisters Abnormality of the coagulation cascade Scoliosis Muscle weakness Cryptorchidism High palate Motor delay Squamous cell carcinoma of the skin Pectus excavatum Respiratory failure Scarring Neonatal hypotonia Joint laxity Muscular dystrophy Limb muscle weakness Delayed puberty Severe muscular hypotonia Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Gait disturbance Congenital contracture Ichthyosis Severe global developmental delay Palpitations Hyperkalemia EMG abnormality Tachypnea Ventricular arrhythmia Congenital sensorineural hearing impairment Lipoatrophy Thromboembolism Severe sensorineural hearing impairment Abnormal left ventricle morphology Abnormality of neutrophils Impaired myocardial contractility Microcephaly Infertility Ataxia Hyponatremia Cognitive impairment Bronchiectasis Dehydration Optic atrophy Hypertonia Cerebral atrophy Absent speech Severe short stature Apnea Acrokeratosis



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