Pain, and Ectodermal dysplasia

Diseases related with Pain and Ectodermal dysplasia

In the following list you will find some of the most common rare diseases related to Pain and Ectodermal dysplasia that can help you solving undiagnosed cases.


Top matches:

Low match MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES


Mutilating palmoplantar keratoderma (PPK) with periorificial keratotic plaques (also known as Olmsted syndrome) is a hereditary palmoplantar keratoderma characterized by the combination of bilateral mutilating transgredient palmoplantar keratoderma and periorificial keratotic plaques.

MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES Is also known as palmoplantar and periorificial keratoderma|mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques|olms|olmsted syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUTILATING PALMOPLANTAR KERATODERMA WITH PERIORIFICIAL KERATOTIC PLAQUES

Low match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Low match ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE


ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

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Other less relevant matches:

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

Low match NAXOS DISEASE


Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.

NAXOS DISEASE Is also known as keratosis palmoplantaris with arrhythmogenic cardiomyopathy|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|kwwh type i|keratoderma with woolly hair type i|mal de naxos|palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyo

Related symptoms:

  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure
  • Dilatation
  • Arrhythmia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NAXOS DISEASE

Low match ALBERS-SCHÖNBERG OSTEOPETROSIS


Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Low match TRICHORHINOPHALANGEAL SYNDROME TYPE 2


Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

TRICHORHINOPHALANGEAL SYNDROME TYPE 2 Is also known as langer-giedion syndrome|deletion 8q24.1|chromosome 8q24.1 deletion syndrome|lgs|monosomy 8q24.1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 2

Low match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Low match SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME


SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME Is also known as hbs-beta-thalassemia syndrome

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Pneumonia
  • Jaundice


SOURCES: ORPHANET MENDELIAN

More info about SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Ectodermal dysplasia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 2; MRD2

Top 5 symptoms//phenotypes associated to Pain and Ectodermal dysplasia

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Abnormality of the dentition Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Sparse hair Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Pain and Ectodermal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate Short stature Growth delay Nystagmus Hypotrichosis Nail dystrophy Abnormality of the skeletal system Alopecia Hyperhidrosis Hypodontia Cleft upper lip Wide nasal bridge Micrognathia Strabismus Abnormal heart morphology Genu valgum Syndactyly Stroke Brittle hair Sparse scalp hair Palmoplantar keratoderma Scoliosis Global developmental delay Sensorineural hearing impairment Erythema Hyperkeratosis Joint laxity

Rare Symptoms - Less than 30% cases


Increased body weight Hoarse voice Hypohidrosis Recurrent otitis media Split hand Otitis media Sepsis Hypoplasia of the maxilla Hydrocephalus Blindness Toe syndactyly Microtia Scarring Camptodactyly Pneumonia Cleft lip Conductive hearing impairment Patent ductus arteriosus Joint dislocation Ventricular septal defect Bone pain Vaginal atresia Sparse eyelashes Supernumerary nipple Abnormality of epiphysis morphology Ectopia lentis Cognitive impairment Delayed speech and language development Brachydactyly Abnormality of cardiovascular system morphology Polydactyly Abnormality of hair texture Finger syndactyly Delayed puberty Dilatation Anhidrotic ectodermal dysplasia Aplasia cutis congenita Sparse and thin eyebrow Microcephaly Osteoarthritis Hypocalcemia Proptosis Long philtrum Anemia Frontal bossing Visual impairment Low-set ears Optic atrophy Hypertelorism Patchy alopecia Ectrodactyly Multicystic kidney dysplasia Recurrent urinary tract infections Hydronephrosis Abnormal cornea morphology Nail dysplasia Carious teeth Epidermal acanthosis Inflammatory abnormality of the skin Anhidrosis Pruritus Papule Corneal opacity Cardiomyopathy Ptosis Curly hair Muscle weakness Delayed skeletal maturation Hypergranulosis Vesicoureteral reflux Plantar hyperkeratosis Pili torti Exostoses Bifid ureter Hip dysplasia Exotropia Gynecomastia Spinal cord compression Cone-shaped epiphyses of the phalanges of the hand Deep philtrum Increased number of teeth Cone-shaped epiphysis Recurrent upper respiratory tract infections Bilateral single transverse palmar creases Scapular winging Abnormal palate morphology Fragile nails Preaxial polydactyly Redundant skin Hypoplastic pelvis Prune belly Oligospermia Scapular exostoses Obesity Cleft ala nasi Hernia Microphthalmia Dysphagia Osteopathia striata Intrauterine growth retardation Cryptorchidism Neoplasm Redundant skin in infancy Multiple long-bone exostoses Rib exostoses Avascular necrosis of the capital femoral epiphysis Nonproductive cough Persistent cloaca Mild postnatal growth retardation Abnormality of the pulmonary vasculature Aplasia/Hypoplasia of the mandible Absent toe Abnormal adipose tissue morphology Hydrometrocolpos Growth hormone deficiency Multiple exostoses Thick nasal alae Ectopia cordis Linear hyperpigmentation Nevus Aseptic necrosis Cranial hyperostosis Hip osteoarthritis Fractures of the long bones Extramedullary hematopoiesis Generalized osteosclerosis Hypertension Facial paralysis Jaundice Abnormal cranial nerve morphology Osteopetrosis Rhinitis Abnormal leukocyte morphology Heart murmur Osteomyelitis Hyperostosis Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Cranial nerve paralysis Bone marrow hypocellularity Increased bone mineral density Intellectual disability, profound Lumbar scoliosis Elevated serum acid phosphatase Thick eyebrow Thin upper lip vermilion Bulbous nose Joint hypermobility Talipes Joint hyperflexibility Inguinal hernia Cholesteatoma Joint stiffness Protruding ear Low-set, posteriorly rotated ears Deeply set eye Apocrine hidrocystoma Tooth abscess Macrotia Giant cell tumor of bone Midclavicular hypoplasia Ventriculomegaly Talipes equinovarus Muscular hypotonia Abnormal facial shape Midclavicular aplasia Generalized hypotonia Abnormality of the vertebral endplates Mandibular osteomyelitis Clinodactyly Reduced visual acuity Agenesis of corpus callosum Cholangitis Open bite Mild short stature Anophthalmia Abnormality of dental morphology Verrucae Stridor Chorioretinal coloboma Abnormality of the larynx Labial hypoplasia Ectropion Hand polydactyly Short finger Short metatarsal Hypoplasia of teeth Dermal atrophy Anomalous pulmonary venous return Skin nodule Reduced number of teeth Bifid nose Ureteral duplication Hand oligodactyly Total anomalous pulmonary venous return Recurrent skin infections Hypermelanotic macule Mixed hearing impairment Oligodontia Aniridia Acute hepatic failure Lower limb asymmetry Diastasis recti Truncus arteriosus Myelomeningocele Stenosis of the external auditory canal Aplasia/Hypoplasia of the lungs Hiatus hernia Split foot Hypoplasia of the iris Foot polydactyly Short clavicles Macule Oligodactyly Facial cleft Hypoplastic nipples Anteriorly placed anus Ulcerative colitis Telangiectasia of the skin Abnormality of digit Aplasia/Hypoplasia of the skin Narrow nasal bridge Vertebral fusion Colitis Arnold-Chiari malformation Papilloma Abdominal pain Upper limb asymmetry Intestinal malrotation Broad nasal tip Delayed eruption of teeth Reticular hyperpigmentation Iris coloboma Abnormality of skin pigmentation Facial asymmetry Abnormality of the foot Cough Camptodactyly of finger Absence of the sacrum Dental malocclusion Ridged fingernail Abnormal cardiac septum morphology Caudal appendage Coloboma Abnormality of the pinna Umbilical hernia Gastroesophageal reflux Abnormal palmar dermatoglyphics Duodenal atresia Weight loss Abnormality of the mediastinum Short metacarpal Abnormality of the skin Inspiratory stridor Short ribs Renal hypoplasia/aplasia Clitoral hypoplasia Spina bifida occulta Abnormality of dental enamel Absent toenail Rough bone trabeculation Horseshoe kidney Abnormality of the middle ear Foot oligodactyly Pointed chin Abnormality of the nail Spina bifida Overgrowth Short phalanx of finger Telangiectasia Hypoplasia of dental enamel Subcutaneous nodule Absent fingernail Omphalocele Thin skin Renal hypoplasia Interphalangeal joint contracture of finger Congenital diaphragmatic hernia Postaxial hand polydactyly Congenital hip dislocation Acanthosis nigricans Lymphedema Proximal renal tubular acidosis Feeding difficulties Failure to thrive Unilateral renal dysplasia Parathyroid hypoplasia Abnormality of T cell physiology Unilateral deafness Bilateral renal dysplasia Thickening of the glomerular basement membrane Septate vagina Pseudopapilledema Distal renal tubular acidosis Micropenis Uterus didelphys Hypocalcemic seizures Aplasia of the uterus Ovarian cyst Tetany Severe postnatal growth retardation Hypoparathyroidism Renal tubular acidosis Basal ganglia calcification Progressive sensorineural hearing impairment Unilateral renal agenesis Hypospadias Narrow mouth Polycystic kidney dysplasia 2-3 toe syndactyly Conical tooth Heat intolerance Trismus Chronic sinusitis Absent eyelashes Blepharitis Pustule Keratoconjunctivitis sicca Sparse body hair Agenesis of permanent teeth Anonychia Hammertoe Abnormality of the nervous system Erythroderma Atresia of the external auditory canal Widely spaced teeth Conjunctivitis Sinusitis Hyperpigmentation of the skin Choanal atresia Fine hair Small nail Microdontia Oral cleft Psoriasiform dermatitis Polycystic ovaries Skin erosion Melanoma Abnormality of the tongue Trichorrhexis nodosa Amniotic constriction ring Subungual hyperkeratosis Generalized osteoporosis Oral leukoplakia Ankylosis Neoplasm of the lung Parakeratosis Squamous cell carcinoma Mutism Cutis laxa Abnormal oral mucosa morphology Neoplasm of the skin Osteolysis Opacification of the corneal stroma Abnormality of the fingernails Skin ulcer Thickened skin Ichthyosis Carcinoma Osteoporosis Severe short stature Flexion contracture Alopecia universalis Abnormality of the gingiva Abnormality of the urinary system Myalgia Chronic kidney disease Hyperkinesis Ischemic stroke Nephrocalcinosis Horizontal nystagmus Renal dysplasia Nephrotic syndrome Bilateral sensorineural hearing impairment Hematuria Abnormality of the kidney Proteinuria Acidosis Palmoplantar hyperhidrosis Diabetes mellitus Rod-cone dystrophy Renal insufficiency Anal fissure Skin fissure Circumungual hyperkeratosis Agenesis of premolar Ainhum Foot pain Autoamputation Hidrotic ectodermal dysplasia Selective tooth agenesis Orthokeratosis Abnormality of the metaphysis Long eyelashes Woolly hair Ventricular extrasystoles Alopecia of scalp Fragile skin Exertional dyspnea Right bundle branch block Akinesia Ventricular arrhythmia Ventricular tachycardia Cardiac arrest Palpitations Reduced ejection fraction Cardiomegaly Cyanosis Abnormal blistering of the skin Syncope Sudden cardiac death Tachycardia Vertigo Dilated cardiomyopathy Dyspnea Respiratory failure Arrhythmia Clubbing of fingers Onycholysis Fatigue Recurrent infections Pancytopenia Recurrent fractures Neurodegeneration Short distal phalanx of finger Paralysis Facial palsy Arthritis Hepatosplenomegaly Mandibular prognathia Visual loss Thrombocytopenia Immunodeficiency T-wave inversion Edema Macrocephaly Abnormal morphology of right ventricular trabeculae Ventricular flutter Abnormal right ventricle morphology Paroxysmal ventricular tachycardia Right ventricular dilatation Prolonged QRS complex Abnormal T-wave Acantholysis Right ventricular cardiomyopathy Congestive heart failure Small distal femoral epiphysis Ankyloblepharon Myopia Flat face Congenital cataract Platyspondyly Arthralgia Glaucoma Brachycephaly Depressivity Midface retrusion Malar flattening Short nose Anteverted nares Epicanthus Bifid uvula Depressed nasal bridge High palate Cataract Otitis externa Vaginal dryness Fibrous syngnathia 3-4 toe syndactyly Bilateral choanal atresia Lacrimal duct atresia Oval face Hyperconvex nail Retinal detachment Esotropia Meningeal calcification Concave nasal ridge Small proximal tibial epiphyses Wide tufts of distal phalanges Irregular distal femoral epiphysis Irregular proximal tibial epiphyses Macrodontia of permanent maxillary central incisor Calcification of falx cerebri Abnormal vitreous humor morphology Hypoplastic frontal sinuses Absent frontal sinuses Lens luxation Ulnar bowing Hypoplastic ilia Cerebral calcification Thick upper lip vermilion Hypoplasia of the zygomatic bone Radial bowing Vitreoretinopathy Pierre-Robin sequence Thickened calvaria Sparse eyebrow Coxa valga Amblyopia Thick lower lip vermilion High myopia Stooped posture



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Delayed speech and language development and Coloboma, related diseases and genetic alterations Edema and Growth hormone deficiency, related diseases and genetic alterations High palate and Joint hypermobility, related diseases and genetic alterations

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