Brachydactyly, and Atopic dermatitis

Diseases related with Brachydactyly and Atopic dermatitis

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


Top matches:

Medium match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Medium match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR


Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Low match ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1


Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 Is also known as as1|asrt1

Related symptoms:

  • Dyspnea
  • Cough
  • Asthma
  • Inflammatory abnormality of the skin
  • Wheezing


SOURCES: OMIM MENDELIAN

More info about ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1

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Other less relevant matches:

Low match ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2


Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002).For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 Is also known as asrt2

Related symptoms:

  • Dyspnea
  • Cough
  • Asthma
  • Inflammatory abnormality of the skin
  • Wheezing


SOURCES: OMIM MENDELIAN

More info about ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2

Low match ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5


Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 Is also known as asrt5

Related symptoms:

  • Dyspnea
  • Cough
  • Asthma
  • Inflammatory abnormality of the skin
  • Wheezing


SOURCES: OMIM MENDELIAN

More info about ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5

Low match ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7


Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}.

Related symptoms:

  • Dyspnea
  • Cough
  • Asthma
  • Inflammatory abnormality of the skin
  • Wheezing


SOURCES: OMIM MENDELIAN

More info about ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7

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 Atopic dermatitis

Symptoms // Phenotype % cases
Inflammatory abnormality of the skin Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Asthma Uncommon - Between 30% and 50% cases
Dyspnea Uncommon - Between 30% and 50% cases
Cough Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Atopic dermatitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Wheezing High palate Global developmental delay Scoliosis Eczema

Rare Symptoms - Less than 30% cases


Short neck Intellectual disability Clinodactyly Sparse scalp hair Combined immunodeficiency Wide intermamillary distance Acne Amenorrhea Hirsutism Vasculitis Thin skin Seizures Gastroesophageal reflux Hypotrichosis Freckling Generalized hypotonia Immunodeficiency Hearing impairment Failure to thrive Abnormal facial shape Bowing of the legs Skeletal dysplasia Platyspondyly Short metacarpal Thick eyebrow Synophrys Irregular vertebral endplates Short femoral neck Secondary amenorrhea Lower limb undergrowth Short philtrum Protruding ear Obesity Cleft palate Delayed epiphyseal ossification Spondyloepimetaphyseal dysplasia Premature pubarche Lumbar scoliosis Enlarged joints Autoimmunity Kyphoscoliosis Fever Slow-growing hair Peripheral pulmonary artery stenosis Thickened helices Abnormality of the pulmonary artery Dermal translucency Abnormality of the intervertebral disk Superior pectus carinatum Abnormal location of ears Loose anagen hair Broad fingertip Abnormality of the nasal bridge Edema Gait disturbance Thrombocytopenia Pes planus Scarring Primary amenorrhea Everted lower lip vermilion Bifid uvula Subcutaneous nodule Episodic fever Recurrent viral infections Periorbital edema Lymphadenitis Renal agenesis Increased serum testosterone level Cubitus valgus Alopecia of scalp Split hand Abnormality of the face Skin ulcer Abnormality of the nail Finger clinodactyly Conjunctivitis Oligodontia Dermal atrophy Melanocytic nevus Abnormality of dental morphology Hypoplastic nipples Ectrodactyly Split foot Fine hair Fair hair Generalized hypopigmentation Sparse axillary hair Absent nipple Breast hypoplasia Nasolacrimal duct obstruction Toenail dysplasia Fingernail dysplasia Lacrimal duct stenosis Nail pits Lacrimal duct atresia Conical incisor Premature loss of permanent teeth Cutaneous photosensitivity Microdontia Unilateral renal agenesis Syndactyly Hypoplasia of the uterus High anterior hairline Abnormality of the ovary Shield chest Aplasia of the uterus Abnormal vagina morphology Frontal balding Redundant neck skin Facial hirsutism Aplasia of the vagina Aplasia/Hypoplasia of the fallopian tube Wide nasal bridge Abnormality of the dentition Midface retrusion Nail dysplasia Clinodactyly of the 5th finger Alopecia Hyperhidrosis Camptodactyly Prominent nasal bridge Finger syndactyly Nail dystrophy Toe syndactyly Anal atresia Dry skin Oral cleft Hypodontia Ectodermal dysplasia Abnormality of refraction Abnormality of coagulation Abnormality of the testis Downslanted palpebral fissures Growth delay Hypertelorism Micrognathia Strabismus Cryptorchidism Ptosis Low-set ears Feeding difficulties Delayed speech and language development Epicanthus Macrocephaly Ventricular septal defect Autoimmune neutropenia Ventriculomegaly Anteverted nares Hydrocephalus Cardiomyopathy Atrial septal defect Vomiting Short nose Abnormality of cardiovascular system morphology Pectus excavatum Patent ductus arteriosus Delayed skeletal maturation Posteriorly rotated ears Cortical myoclonus Vasculitis in the skin Hyperactivity Respiratory tract infection Ataxia Sensorineural hearing impairment Cognitive impairment Anemia Dysarthria Abnormality of the skeletal system Recurrent infections Hyporeflexia Recurrent respiratory infections Myoclonus Conductive hearing impairment Abnormality of the nervous system Erythema Membranoproliferative glomerulonephritis Hemolytic anemia Neutropenia Sensory impairment Lymphoma Bronchiectasis Lymphopenia Narrow palpebral fissure Leukopenia Recurrent skin infections Glomerulonephritis Severe combined immunodeficiency Allergic rhinitis Prominent forehead Hypothyroidism Enlarged cisterna magna Failure to thrive in infancy Hypocalcemia Abnormality of the fingernails Abnormal palate morphology Infantile muscular hypotonia Arnold-Chiari malformation Increased intracranial pressure Optic nerve hypoplasia Coarse hair Relative macrocephaly Deep philtrum Nasal speech Patent foramen ovale Overfolded helix Hyperpigmentation of the skin Hypoplastic toenails Right bundle branch block Aplasia/Hypoplasia of the eyebrow Neurodevelopmental delay Natal tooth Arnold-Chiari type I malformation Broad neck Abnormality of the elbow Hiatus hernia Fragile nails Hypomagnesemia Abnormally large globe Hoarse voice Cafe-au-lait spot Macrotia Pulmonic stenosis High forehead Retrognathia Umbilical hernia Hypoglycemia Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Postnatal growth retardation Craniosynostosis Sparse hair Attention deficit hyperactivity disorder Pectus carinatum Dolichocephaly Carious teeth Mitral regurgitation Ichthyosis Joint hypermobility Thin vermilion border High, narrow palate Webbed neck Growth hormone deficiency Dandy-Walker malformation Cyanosis Coarctation of aorta Ventricular hypertrophy Low posterior hairline Thick lower lip vermilion Adermatoglyphia



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