Brachydactyly, and Skin rash

Diseases related with Brachydactyly and Skin rash

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


Top matches:

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 PROGRESSIVE OSSEOUS HETEROPLASIA


Progressive osseous heteroplasia (POH) is a rare genetic bone disorder characterized clinically by progressive extraskeletal bone formation presenting in early life with cutaneous ossification, that progressively involves subcutaneous and then subsequently deep connective tissues, including muscle and fascia. POH overlaps with a number of related genetic disorders including Albright hereditary osteodystrophy, pseudohypoparathyroidism (see these terms), and primary osteoma cutis, that share the common features of superficial heterotopic ossification in association with inactivating mutations of GNAS gene (20q13.2-q13.3), coding for guanine nucleotide-binding proteins. POH can, however, be distinguished clinically by the deep and progressive nature of the heterotopic bone formation.

PROGRESSIVE OSSEOUS HETEROPLASIA Is also known as familial ectopic ossification|ectopic ossification, familial|poh|osteoma cutis

Related symptoms:

  • Scoliosis
  • Growth delay
  • Neoplasm
  • Pain
  • Brachydactyly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROGRESSIVE OSSEOUS HETEROPLASIA

Low match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

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Other less relevant matches:

Low match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Low match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Low match OMENN SYNDROME


Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2


Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE


Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE Is also known as spondylodysplasia and premature pubarche|semd, pakistani type|spondyloepimetaphyseal dysplasia, pakistani type

Related symptoms:

  • Short stature
  • Scoliosis
  • Brachydactyly
  • Gait disturbance
  • Kyphoscoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE

Low match MÜLLERIAN APLASIA AND HYPERANDROGENISM


Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence or underdevelopment of the uterus, and sometimes absence or underdevelopment of the vagina.

MÜLLERIAN APLASIA AND HYPERANDROGENISM Is also known as wnt4 deficiency|mÜllerian duct failure and hyperandrogenism|mullerian duct failure and hyperandrogenism

Related symptoms:

  • Short stature
  • Cleft palate
  • High palate
  • Brachydactyly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MÜLLERIAN APLASIA AND HYPERANDROGENISM

Low match ADULT SYNDROME


ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Skin rash

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Dry skin Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Skin rash. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Alopecia Clinodactyly Anemia Fever Edema Seizures Wide nasal bridge Papule Hearing impairment Scoliosis Eczema Thickened skin Immunodeficiency Thrombocytopenia Inflammatory abnormality of the skin Microcephaly Cataract Abnormality of cardiovascular system morphology Pruritus

Rare Symptoms - Less than 30% cases


Clinodactyly of the 5th finger Vasculitis Spasticity Finger syndactyly Abnormal thrombocyte morphology Hirsutism Amenorrhea Acne Leukocytosis Lymphadenopathy Premature birth Intrauterine growth retardation Hepatosplenomegaly Skeletal dysplasia Splenomegaly Toe syndactyly Frontal bossing Macrocephaly Short toe Hepatomegaly Anal atresia Camptodactyly Abnormal heart morphology Behavioral abnormality Fair hair Syndactyly Abnormality of the dentition Short neck Nasolacrimal duct obstruction Failure to thrive Autoimmunity Hypotrichosis Generalized hypopigmentation Abnormal facial shape Pes planus Hypoplastic left heart Coarctation of aorta Microdontia Attention deficit hyperactivity disorder Hypothyroidism Postnatal growth retardation Recurrent viral infections Osteopenia Aplasia/Hypoplasia of the eyebrow Combined immunodeficiency Anteverted nares Sensorineural hearing impairment Melanocytic nevus Hyperhidrosis Protruding ear Cutaneous photosensitivity Abnormality of the nail Scaling skin Macule Obesity Scarring Short metacarpal Subcutaneous nodule Hypermelanotic macule Primary amenorrhea Split foot Ectopic anus Abnormal vagina morphology Duodenal atresia Eyelid coloboma Chronic constipation Retinal dysplasia Alopecia of scalp Diastasis recti Ectrodactyly Missing ribs Double outlet right ventricle Aplasia of the uterus Abnormal eyelash morphology Bipolar affective disorder Wheezing Sparse axillary hair Transposition of the great arteries Mitral stenosis Broad hallux phalanx Absent nipple Clitoral hypoplasia Internal hemorrhage Annular pancreas Abnormality of the anus Freckling Toe clinodactyly Giant platelets Macular hypoplasia Central hypothyroidism Nuclear cataract U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Hypoplastic nipples Broad columella Labial hypoplasia Aplasia/Hypoplasia of the earlobes Natal tooth Slender finger Bilateral camptodactyly Conical incisor Multicystic kidney dysplasia Horseshoe kidney Bone marrow hypocellularity Spina bifida Lacrimal duct atresia Aortic valve stenosis Leukodystrophy Sinusitis Nail pits Premature loss of permanent teeth Short thumb Amblyopia Pachygyria Abnormal form of the vertebral bodies Pancytopenia Dehydration High anterior hairline Holoprosencephaly Azoospermia Partial agenesis of the corpus callosum Shield chest Atrioventricular canal defect Breast hypoplasia Flat occiput Toenail dysplasia Fingernail dysplasia Hammertoe Heart murmur Chorioretinal coloboma Abnormal palate morphology Ectropion Trigonocephaly Hand polydactyly Pyloric stenosis Schizophrenia Lacrimal duct stenosis Infantile muscular hypotonia Tachypnea Arteria lusoria Congenital thrombocytopenia Aplasia/Hypoplasia of the fallopian tube Periorbital edema Hypodontia Ectodermal dysplasia Nail dysplasia Platyspondyly Kyphoscoliosis Gait disturbance Lymphadenitis Episodic fever Bowing of the legs Bifid uvula Cubitus valgus Wide intermamillary distance Everted lower lip vermilion Severe B lymphocytopenia Desquamation of skin soon after birth Facial hirsutism Fine hair Aplasia of the vagina Short femoral neck Growth hormone deficiency Cleft palate Renal agenesis Thick eyebrow Synophrys Short philtrum Midface retrusion High palate Prominent nasal bridge Premature pubarche Secondary amenorrhea Nail dystrophy Lumbar scoliosis Lower limb undergrowth Enlarged joints Spondyloepimetaphyseal dysplasia Delayed epiphyseal ossification Oral cleft Irregular vertebral endplates Abnormal lymphocyte morphology Generalized lymphadenopathy Megakaryocyte dysplasia Lymphoma Recurrent bacterial infections Increased body weight Chronic diarrhea Oligodontia Abnormality of the metaphysis Dermal atrophy Nephrotic syndrome Sepsis Conjunctivitis Abnormality of dental morphology Frontal balding Abnormality of the ovary Hypoplasia of the uterus Severe short stature Pneumonia Diarrhea Abnormality of the curvature of the vertebral column Shock Finger clinodactyly Protracted diarrhea Split hand Recurrent fungal infections Sparse scalp hair B lymphocytopenia Metaphyseal chondrodysplasia Unilateral renal agenesis Cellular immunodeficiency Hypoplasia of the thymus Increased serum testosterone level Hypoproteinemia Disproportionate short-limb short stature Severe combined immunodeficiency Thin skin Hashimoto thyroiditis Abnormality of the face Thyroiditis Skin ulcer Erythroderma Eosinophilia Otitis media Hypogonadism Webbed neck Joint dislocation Arthropathy Abnormal joint morphology Progressive sensorineural hearing impairment Elevated erythrocyte sedimentation rate Urticaria Reduced bone mineral density Increased intracranial pressure Purpura Meningitis Uveitis Overgrowth Migraine Nausea and vomiting Arthritis Myalgia EEG abnormality Arthralgia Proptosis Amyloidosis Juvenile rheumatoid arthritis Fatigue Hypoplasia of the corpus callosum Aggressive behavior Anxiety Autism Hyperactivity Depressivity Headache Hypertonia Vomiting Tremor Delayed closure of the anterior fontanelle Hyperreflexia Motor delay Cognitive impairment Abnormal granulocyte morphology Retrobulbar optic neuritis Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Elevated C-reactive protein level Blindness Visual impairment Abnormality of the liver Hypertrichosis Generalized hyperkeratosis Hypergranulosis Abnormality of the testis Irregular hyperpigmentation Palmoplantar hyperkeratosis Neoplasm of the skin Generalized hirsutism Abnormality of the hair Epidermal acanthosis Diffuse palmoplantar hyperkeratosis Abnormal blistering of the skin Palmoplantar keratoderma Tapered finger Corneal opacity Erythema Weight loss Hyperkeratosis Glaucoma Diabetes mellitus Diffuse palmoplantar keratoderma Patchy palmoplantar keratoderma Ectopic ossification in muscle tissue Calcinosis Osteoma cutis Osteoma Abnormality of the parathyroid gland Ectopic ossification Numerous nevi Ectopic calcification Pseudohypoparathyroidism Constrictive median neuropathy Ankylosis Neoplasm Abnormality of the musculature Celiac disease Short metatarsal Sarcoma Bone pain Osteoarthritis Limitation of joint mobility Nevus Pain Irritability Abnormality of the cerebral white matter Decreased antibody level in blood Agenesis of corpus callosum Hydronephrosis Hypoglycemia Thin upper lip vermilion Retrognathia High forehead Osteoporosis Prominent forehead Recurrent respiratory infections Constipation Intellectual disability, moderate Inguinal hernia Patent ductus arteriosus Pectus excavatum Hypospadias Hernia Recurrent infections Cerebral atrophy Microphthalmia Telecanthus Low-set, posteriorly rotated ears Short nose Talipes Intestinal malrotation Postural instability Microcornea Single transverse palmar crease Iris coloboma Bruising susceptibility Tachycardia Smooth philtrum Facial asymmetry Feeding difficulties in infancy Narrow chest Dolichocephaly Hip dislocation Neurological speech impairment Small for gestational age Leukemia Abnormal cardiac septum morphology Coloboma Craniosynostosis Long philtrum Intellectual disability, mild Nausea Self-mutilation Microphakia Prenatal maternal abnormality Hyperphenylalaninemia Body odor Folate deficiency Mood changes Abnormal posturing Blue irides Poor coordination Phenylpyruvic acidemia Iron deficiency anemia Scleroderma Malnutrition Obsessive-compulsive behavior Spontaneous abortion Psychosis Cerebral calcification Delayed myelination Asthma Increased level of hippuric acid in urine Reduced phenylalanine hydroxylase activity Congestive heart failure Depressed nasal bridge Atrial septal defect Hydrocephalus Ventriculomegaly Talipes equinovarus Ventricular septal defect Downslanted palpebral fissures Optic atrophy Epicanthus Feeding difficulties Maternal hyperphenylalaninemia Flexion contracture Low-set ears Ptosis Cryptorchidism Muscular hypotonia Strabismus Micrognathia Hypertelorism Generalized hypotonia Adermatoglyphia



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