Brachydactyly, and Palmoplantar keratoderma

Diseases related with Brachydactyly and Palmoplantar keratoderma

In the following list you will find some of the most common rare diseases related to Brachydactyly and Palmoplantar keratoderma that can help you solving undiagnosed cases.


Top matches:

Medium match MAL DE MELEDA


Mal de Meleda (MdM) is a diffuse palmoplantar keratoderma, initially reported in the Island of Meleda, characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.

MAL DE MELEDA Is also known as keratosis palmoplantaris transgrediens of siemens|meleda disease|transgrediens palmoplantar keratoderma of siemens

Related symptoms:

  • Brachydactyly
  • Hyperhidrosis
  • Hyperkeratosis
  • Erythema
  • Ichthyosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about MAL DE MELEDA

Low match ERYTHROKERATODERMIA VARIABILIS


The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

Low match OCULODENTODIGITAL DYSPLASIA


Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

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Other less relevant matches:

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA


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

Low match ROTHMUND-THOMSON SYNDROME TYPE 2


Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.

ROTHMUND-THOMSON SYNDROME TYPE 2 Is also known as poikiloderma of rothmund-thomson type 2|rts2

Related symptoms:

  • Growth delay
  • Cataract
  • Anemia
  • Frontal bossing
  • Diarrhea


SOURCES: ORPHANET MENDELIAN

More info about ROTHMUND-THOMSON SYNDROME TYPE 2

Low match KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3


KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3 Is also known as kpps3|keratoderma, palmoplantar, striate form iii|striate palmoplantar keratoderma iii|sppk3

Related symptoms:

  • Palmoplantar keratoderma


SOURCES: OMIM MESH MENDELIAN

More info about KERATOSIS PALMOPLANTARIS STRIATA III; PPKS3

Low match INSULIN-RESISTANCE SYNDROME TYPE A


Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.

INSULIN-RESISTANCE SYNDROME TYPE A Is also known as diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|iran, type a

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Brachydactyly
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INSULIN-RESISTANCE SYNDROME TYPE A

Top 5 symptoms//phenotypes associated to Brachydactyly and Palmoplantar keratoderma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Hyperkeratosis Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Palmoplantar keratoderma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Carious teeth Hypotrichosis Ataxia Neoplasm of the skin Abnormality of the nail Frontal bossing Glaucoma Mandibular prognathia Abnormality of the dentition Microcephaly Epidermal acanthosis Short stature Fragile nails Palmoplantar hyperkeratosis Erythema

Rare Symptoms - Less than 30% cases


Hamartomatous polyposis Growth delay Cerebral calcification Overgrowth Microdontia Nail dystrophy Cleft upper lip Astrocytoma Syndactyly Microphthalmia Fibroma Narrow nose Absent eyebrow Sparse hair Abnormality of the pinna Ovarian carcinoma Polydactyly Visual loss Hand polydactyly Prolactin excess Basal cell carcinoma Pectus excavatum Melanocytic nevus Hyperhidrosis Nausea and vomiting Intellectual disability, mild Exotropia Macroglossia Subcutaneous nodule Papule Carcinoma Hydrocephalus Scoliosis Diarrhea Abnormality of the skeletal system Downslanted palpebral fissures Macrocephaly Motor delay Pain Skin tags Neoplasm Failure to thrive Atrial septal defect Brittle hair Muscle weakness Cognitive impairment Strabismus Macule Abnormality of cardiovascular system morphology Generalized hyperkeratosis Cutaneous photosensitivity Cleft palate Spasticity Diffuse palmoplantar keratoderma Hypertrichosis Hypergranulosis Pruritus Abnormality of the hair Generalized hirsutism Scaling skin Seizures Epicanthus Myopia Ichthyosis Dysarthria Diabetes mellitus Subungual hyperkeratosis Alopecia Telangiectasia Lymphopenia Acanthosis nigricans Gynecomastia Chronic diarrhea Polycystic ovaries Increased intracranial pressure Broad thumb Cranial nerve paralysis Drooling Intention tremor Hemangioma Cafe-au-lait spot Prematurely aged appearance Hypopigmented skin patches Intracranial hemorrhage Hamartoma Acute myeloid leukemia Multiple cafe-au-lait spots Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Cutis marmorata Dysdiadochokinesis Melanoma Incoordination Narrow forehead Goiter Lymphoma Type II diabetes mellitus Insulin resistance Accelerated skeletal maturation Breast carcinoma Decreased antibody level in blood Intellectual disability, moderate Hyperinsulinemia Irregular ossification of hand bones Delayed speech and language development High palate Low-set ears Ketoacidosis Generalized hypotonia Global developmental delay Hamartomatous stomach polyps Macroorchidism Cardiac fibroma Tremor Bridged sella turcica Plantar pits Menstrual irregularities Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Skeletal muscle atrophy Myopathy Abnormal cerebellum morphology Hypothyroidism Hypoplasia of the maxilla Increased number of teeth Polymicrogyria Joint hypermobility Leukemia Abnormality of the kidney Ovarian neoplasm Proximal muscle weakness Narrow mouth Growth hormone excess Autism Recurrent infections Dilatation Headache Generalized hyperpigmentation Immunodeficiency Kyphosis Insulin-resistant diabetes mellitus Hyperthyroidism Abnormality of the vasculature Thyroiditis Obesity Ectropion Short toe Hypoplasia of teeth Hypohidrosis Open mouth Small nail Eczema Everted lower lip vermilion Macrotia Keratitis Scarring Paralysis Flexion contracture Delayed puberty Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Erythroderma Anhidrosis Trichilemmoma Osteopenia Squamous cell carcinoma Myelodysplasia Hypoplasia of the radius Short thumb Neutropenia Osteosarcoma Skeletal dysplasia Poikiloderma Hypogonadism External genital hypoplasia Anemia Concave nasal ridge Thin nail Eclabion Congenital nonbullous ichthyosiform erythroderma Lack of skin elasticity Corneal erosion Congenital ichthyosiform erythroderma Short finger Dysplastic gangliocytoma of the cerebellum Enlarged cerebellum Hodgkin lymphoma Arteriovenous malformation Cavernous hemangioma Long penis Cellular immunodeficiency Bone cyst Intestinal polyposis Ovarian cyst Abnormality of the uterus Furrowed tongue Hydrocele testis Papilloma Meningioma Megalencephaly Muscle cramps Papilledema Absent eyelashes Lipoma Scaphocephaly Hashimoto thyroiditis Renal cell carcinoma Enlarged polycystic ovaries Neoplasm of the central nervous system Cutis marmorata telangiectatica congenita Colorectal polyposis Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Calcification of falx cerebri Hirsutism Pseudopapilledema Progressive macrocephaly Endometrial carcinoma Decreased proportion of CD4-positive T cells Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Histiocytoma Hemivertebrae Orbital cyst Tetraparesis Spastic paraparesis Paraparesis Lymphedema Dental crowding Hypoplasia of dental enamel Abnormality of the metaphysis Abnormal form of the vertebral bodies Short palpebral fissure Fine hair Abnormality of the fingernails Hypotelorism Underdeveloped nasal alae Microcornea Flat face Paresthesia Paraplegia Toe syndactyly Abnormality of the cerebral white matter Spastic paraplegia Abnormality of dental enamel Spastic tetraparesis Finger syndactyly Narrow nasal bridge Median cleft lip External ear malformation Premature loss of teeth Hyperactive deep tendon reflexes Curly hair Basal ganglia calcification Metaphyseal dysplasia High hypermetropia Progressive spasticity Abnormality of vision Abnormality of the ear Non-midline cleft lip Hyperostosis Preaxial hand polydactyly Aplasia/Hypoplasia of the cerebellum Cubitus valgus Preaxial polydactyly Bilateral ptosis Reduced number of teeth Hip dislocation Camptodactyly of finger Abnormality of the clavicle Dry skin Patchy palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Abnormality of the testis Irregular hyperpigmentation Hypermelanotic macule Thickened skin Abnormal blistering of the skin Tapered finger Corneal opacity Ptosis Skin rash Protruding ear Weight loss Congenital symmetrical palmoplantar keratosis Hyperkeratosis with erythema Ainhum Concave nail Thick nail Abnormality of the mouth Nystagmus Visual impairment Blepharophimosis Upslanted palpebral fissure Abnormality of the eye Camptodactyly Abnormality of the nervous system Conductive hearing impairment Deeply set eye Hypoglycemia Umbilical hernia High forehead Clinodactyly of the 5th finger Hyperreflexia Arrhythmia Clinodactyly Short nose Blindness Edema Anteverted nares Ventricular septal defect Gait disturbance Optic atrophy Hypoparathyroidism Taurodontia Palmar pits Hypogonadotrophic hypogonadism Long fingers Milia Disproportionate tall stature Inflammation of the large intestine Nephritis Glomerulonephritis Relative macrocephaly Spina bifida occulta Muscle stiffness Vertebral fusion Short ribs Spina bifida Bradycardia Hyperpigmentation of the skin Hemiparesis Abnormality of the ribs Hypotension Nevus Postaxial polydactyly Agenesis of permanent teeth Colitis Oral cleft Ectopic calcification Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Parietal bossing Vertebral wedging Abnormality of the sense of smell Cervical ribs Supernumerary ribs Medulloblastoma Abnormality of the sternum Brain neoplasm Ulcerative colitis Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Down-sloping shoulders Sprengel anomaly Thoracic scoliosis Iris coloboma Arachnodactyly Low hanging columella Broad columella Madelung deformity Broad alveolar ridges Progressive spastic paraparesis Narrow nasal ridge Abnormal diaphysis morphology Premature loss of primary teeth Pseudohypoparathyroidism Selective tooth agenesis Trichorrhexis nodosa Joint contracture of the 5th finger Short middle phalanx of the 5th finger Dry hair Slow-growing hair Neurogenic bladder Abnormality of the nose Abnormal cortical bone morphology Short hallux Mild global developmental delay Retinal dysplasia Cranial hyperostosis Aplasia/Hypoplasia of the middle phalanges of the hand Coloboma Abdominal pain Facial palsy Cleft lip Telecanthus Proteinuria EEG abnormality Coarse facial features Retrognathia Kyphoscoliosis Proptosis Brachycephaly Optic nerve dysplasia Wide nasal bridge Cryptorchidism Thin anteverted nares Vertebral hyperostosis 4-5 finger syndactyly Abnormality iris morphology Tooth abscess 3-4 toe syndactyly Hyperintensity of cerebral white matter on MRI Generalized hypertrichosis



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