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 BASAN SYNDROME

Complete congenital absence of dermatoglyphs is a rare syndrome characterized by autosomal dominant inheritance of the lack of ridges on palms and soles, neonatal acral blisters and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating of palms and soles, and contracture of digits. Additional features may include single palmar transverse crease, palmoplantar keratoderma, and nail grooving (summary by Limova et al., 1993).

BASAN SYNDROME Is also known as adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities, ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease

Related symptoms:

  • Autosomal dominant inheritance
  • Milia
  • Flexion contracture
  • Pain
  • Syndactyly


SOURCES: ORPHANET OMIM MONDO MESH GARD

More info about BASAN SYNDROME

Low match ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME

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.

ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME Is also known as mcgrath syndrome;ectodermal dysplasia-skin fragility syndrome; mcgrath syndrome

Related symptoms:

  • Failure to thrive
  • Nevus
  • Pain
  • Immunodeficiency
  • Alopecia


SOURCES: UMLS GARD MONDO ORPHANET MESH SCTID OMIM

More info about ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME

Low match NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3; NDNC3

A white appearance of the nails can result from whitening of the nail plate (true leukonychia), the nail bed (pseudoleukonychia), or neither (apparent leukonychia), and can be due to a variety of factors including infectious, metabolic, or systemic diseases, trauma, or drugs. One of the rare causes of whitening of the nail plate is hereditary leukonychia (summary by Kiuru et al., 2011). Leukonychia may involve all of the nail (leukonychia totalis) or only part of the nail (leukonychia partialis), or can appear as one or more transverse bands (leukonychia striata) or white spots (leukonychia punctata).For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (OMIM ).

NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3; NDNC3 Is also known as leukonychia totalis and/or partialis, porcelain nails;

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Pain
  • Diabetes mellitus
  • Photophobia


SOURCES: MESH SCTID OMIM UMLS ORPHANET DOID MONDO GARD

More info about NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3; NDNC3

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Other less relevant matches:

Low match ODONTOONYCHODERMAL DYSPLASIA; OODD

Odonto-onycho-dermal dysplasia is a form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair.

ODONTOONYCHODERMAL DYSPLASIA; OODD Is also known as ;oodd

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Neoplasm
  • Nevus
  • Pain


SOURCES: ORPHANET OMIM MESH UMLS SCTID GARD MONDO

More info about ODONTOONYCHODERMAL DYSPLASIA; OODD

Low match PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES

Olmsted syndrome is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927).

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

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment


SOURCES: OMIM UMLS ORPHANET MONDO

More info about PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES

Low match MARSHALL SYNDROME; MRSHS

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.

MARSHALL SYNDROME; MRSHS Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM UMLS MESH SCTID GARD NCIT MONDO ORPHANET

More info about MARSHALL SYNDROME; MRSHS

Low match ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome-3 (ECC3) is an autosomal dominant disorder comprising absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate (summary by Maas et al., 1996).Also see EEC1 (OMIM ), which has been mapped to chromosome 7q11.

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3 Is also known as eec syndrome 3;ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Pica
  • Hearing impairment


SOURCES: ORPHANET OMIM

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3

Low match TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2

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 II; TRPS2 Is also known as langer-giedion syndrome;lgs, chromosome 8q24.1 deletion syndrome;deletion 8q24.1; langer-giedion syndrome; monosomy 8q24.1

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET MONDO UMLS OMIM GARD MESH DOID NCIT SCTID

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE II; TRPS2

Low match FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4

Related symptoms:

  • Autosomal dominant inheritance
  • Pain
  • Splenomegaly
  • Fever
  • Arthralgia


SOURCES: MONDO DOID UMLS OMIM

More info about FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4

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

Symptoms // Phenotype % cases
Autosomal dominant inheritance Common - Between 50% and 80% cases
Hyperhidrosis Uncommon - Between 30% and 50% cases
Sparse hair Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Nevus 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


Sparse scalp hair Epiphora Blepharitis Hearing impairment Hypotrichosis Hypohidrosis Palmoplantar keratoderma Nail dystrophy Hyperkeratosis Dry skin Epidermal acanthosis Pruritus Erythema Sparse and thin eyebrow Flexion contracture Fine hair Syndactyly Carious teeth Hypodontia Short stature Photophobia Sensorineural hearing impairment Abnormality of the dentition Cleft palate

Rare Symptoms - Less than 30% cases


Genu valgum Arthralgia Nail dysplasia Carcinoma Neoplasm of the skin Neoplasm Abnormality of the skeletal system Reduced number of teeth Keratitis Plantar hyperkeratosis Malar flattening Long philtrum Parakeratosis Selective tooth agenesis Palmoplantar hyperhidrosis Seizures Growth delay Delayed skeletal maturation Wide nasal bridge Joint laxity Depressed nasal bridge Hidrotic ectodermal dysplasia Hypoplasia of the maxilla Recurrent urinary tract infections Abnormality of the fingernails Thick eyebrow Papule Abnormal blistering of the skin Skin vesicle Pica Cutaneous syndactyly Polydactyly Finger syndactyly Alopecia Skin ulcer Palmoplantar hyperkeratosis Sparse eyelashes Aplasia cutis congenita Vesicoureteral reflux Growth hormone deficiency Autosomal recessive inheritance Inflammatory abnormality of the eye Oral cleft Xerostomia Microdontia Choanal atresia Small distal femoral epiphysis Corneal erosion Wide tufts of distal phalanges Ectrodactyly Split foot Small proximal tibial epiphyses Blue irides Fair hair Sparse axillary hair Slow-growing hair Aplasia/Hypoplasia of the nipples Irregular distal femoral epiphysis Hypoplasia of the thymus Meningeal calcification Lacrimation abnormality Depressed nasal tip Anterior hypopituitarism Sparse pubic hair Generalized hypopigmentation Entropion Bladder diverticulum Central diabetes insipidus Dysuria Cryptorchidism Hypospadias Hypoplastic toenails Cleft upper lip Cleft lip Abnormality of dental enamel Toe syndactyly Hypogonadotrophic hypogonadism Microtia Nephrotic syndrome Duplicated collecting system Renal hypoplasia/aplasia Renal agenesis Coarse hair Hypoplasia of dental enamel Hydroureter Taurodontia Proximal placement of thumb Blepharophimosis Aplasia/Hypoplasia of the skin Hydronephrosis Renal dysplasia Aplasia/Hypoplasia of the thumb Micropenis Lymphoma Dilatation External ear malformation Hypoplastic nipples Split hand Abnormality of the nasopharynx Coma Ureterocele Recurrent upper respiratory tract infections Spinal cord compression Cone-shaped epiphyses of the phalanges of the hand Exostoses Increased number of teeth Cone-shaped epiphysis Preaxial polydactyly Redundant skin Fragile nails Deep philtrum Abnormal palate morphology Scapular winging Joint dislocation Bone pain Bilateral single transverse palmar creases Gynecomastia Oligospermia Vaginal atresia Hip dysplasia Rib exostoses Urticaria Skin rash Fever Splenomegaly Redundant skin in infancy Multiple long-bone exostoses Scapular exostoses Persistent cloaca Thick nasal alae Aplasia/Hypoplasia of the mandible Mild postnatal growth retardation Hydrometrocolpos Prune belly Absent toe Multiple exostoses Avascular necrosis of the capital femoral epiphysis Exotropia Joint hypermobility Urethral stenosis Megacystis Microcephaly Generalized hypotonia Absence of Stensen duct Generalized microdontia Periorbital hyperpigmentation Transverse vaginal septum Urethral atresia Muscular hypotonia Mesoaxial polydactyly Abnormality of the inner ear Dacryocystitis Aplasia/Hypoplasia of the breasts Nail pits Abnormality of the middle ear Thin nail Scoliosis Abnormal facial shape Stroke Protruding ear Bulbous nose Talipes Delayed puberty Joint hyperflexibility Deeply set eye Low-set, posteriorly rotated ears Joint stiffness Thin upper lip vermilion Cognitive impairment Conductive hearing impairment Macrotia Abnormality of cardiovascular system morphology Calcification of falx cerebri Ventriculomegaly Brachydactyly Delayed speech and language development Irregular proximal tibial epiphyses Acrania Macrodontia of permanent maxillary central incisor Dystrophic fingernails Motor delay Global developmental delay Smooth tongue Abnormality of primary teeth Persistence of primary teeth Dry hair Anodontia Severe short stature Dystrophic toenail Agenesis of permanent teeth Sparse body hair Anonychia Abnormality of dental morphology Oligodontia Osteoporosis Ranula Trichilemmal cyst Melanoma Pili torti Neoplasm of the lung Anhidrosis Curly hair Papilloma Squamous cell carcinoma Mutism Corneal opacity Cutis laxa Thickened skin Inflammatory abnormality of the skin Osteolysis Opacification of the corneal stroma Ichthyosis Abnormality of the skin Short eyelashes Oral leukoplakia Overfolded helix Immunodeficiency Failure to thrive White papule Adermatoglyphia Cutaneous syndactyly of toes Hypermelanotic macule Sacral dimple Abnormality of the nail Macule Scarring Single transverse palmar crease Tapered finger Camptodactyly Clinodactyly Chronic diarrhea Scaling skin Adenoma sebaceum Ketonuria Epidermoid cyst Leukonychia Concave nail Onycholysis Abnormal toenail morphology Abnormality of the eyelashes Psoriasiform dermatitis Fragile skin Nephrolithiasis Type II diabetes mellitus Diabetes mellitus Woolly hair Furrowed tongue Absent eyelashes Abnormal eyebrow morphology Ankylosis Generalized osteoporosis Posterior vitreous detachment Thick lower lip vermilion Coxa valga Amblyopia Osteoarthritis Recurrent otitis media Otitis media High myopia Esotropia Sparse eyebrow Cerebral calcification Bifid uvula Milia Retinal detachment Flat face Platyspondyly Ectopia lentis Thickened calvaria Congenital cataract Vitreoretinal degeneration Abnormal vitreous humor morphology Hypoplastic frontal sinuses Anhidrotic ectodermal dysplasia Lens luxation Absent frontal sinuses Juvenile cataract Ulnar bowing Pierre-Robin sequence Concave nasal ridge Thick upper lip vermilion Hypoplastic ilia Small face Radial bowing Hypoplasia of the zygomatic bone Retinal degeneration Arthritis Hypergranulosis Abnormality of the gingiva Anal fissure Circumungual hyperkeratosis Agenesis of premolar Foot pain Autoamputation Ainhum Subungual hyperkeratosis Hypertelorism Abnormal cornea morphology Abnormal oral mucosa morphology Trichorrhexis nodosa Alopecia universalis Abnormality of the tongue Amniotic constriction ring Skin fissure Nystagmus Proptosis Frontal bossing Glaucoma Brachycephaly Depressivity Midface retrusion Short nose Anteverted nares Tics Micrognathia Myopia High palate Epicanthus Visual impairment Low-set ears Cataract Strabismus Episodic



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