Brachydactyly, and Eczema

Diseases related with Brachydactyly and Eczema

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


Top matches:

Medium 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

Low 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

Low match PERIPHERAL DYSOSTOSIS


Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

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Other less relevant matches:

Low match GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY


GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Low match X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME


X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

Low match INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME


Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Low match ROIFMAN SYNDROME


Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

Low match 2Q37 MICRODELETION SYNDROME


Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

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 DUBOWITZ SYNDROME


Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Eczema

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Intrauterine growth retardation Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Anteverted nares

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Abnormal facial shape Hearing impairment Generalized hypotonia Postnatal growth retardation Clinodactyly of the 5th finger Attention deficit hyperactivity disorder Sparse scalp hair Narrow palpebral fissure Cognitive impairment Deeply set eye Abnormality of cardiovascular system morphology Obesity Autism Short metacarpal Asthma Hypertelorism Cryptorchidism Blepharophimosis Recurrent infections Prominent forehead Aggressive behavior Abnormality of the skeletal system Depressed nasal bridge Short phalanx of finger Thin upper lip vermilion Wide intermamillary distance Midface retrusion High palate Anemia Toe syndactyly Dry skin Failure to thrive Sparse hair Fair hair Delayed skeletal maturation Underdeveloped nasal alae Downslanted palpebral fissures Small hand Short metatarsal Broad nasal tip Short toe Autistic behavior Hyperactivity Long philtrum Neoplasm

Rare Symptoms - Less than 30% cases


Osteopenia Finger syndactyly Delayed eruption of teeth Nystagmus Blue irides Short digit Downturned corners of mouth Synophrys Anxiety Lymphopenia Protruding ear Micrognathia Hypospadias Osteoarthritis Accelerated skeletal maturation Round face Cataract High, narrow palate Pneumonia Severe short stature Malar flattening Motor delay Wide nasal bridge Lymphoma Epicanthus Obsessive-compulsive behavior Delayed speech and language development Sacral dimple Cone-shaped epiphysis Mild short stature Abnormality of the dentition Hyporeflexia Hypoplasia of the corpus callosum Short neck Short foot Generalized hypopigmentation Behavioral abnormality Prominent eyelashes Thin vermilion border Joint hyperflexibility Short palm Wide nose Highly arched eyebrow Microdontia Ventriculomegaly Finger clinodactyly Underdeveloped supraorbital ridges Tremor Broad columella Broad-based gait Inflammatory abnormality of the skin Cutaneous photosensitivity Fine hair Wide mouth Nasolacrimal duct obstruction Toenail dysplasia Immunodeficiency Sandal gap Chronic diarrhea Vomiting Pectus excavatum Hypotrichosis Conductive hearing impairment Gastroesophageal reflux Feeding difficulties Strabismus Coarse facial features Sensorineural hearing impairment Ataxia Clinodactyly Alopecia Hydrocephalus Muscular hypotonia Hernia Low anterior hairline Brachycephaly Myopia Macrocephaly Pulmonary edema Pain Narrow nose Biconvex vertebral bodies Irregular femoral epiphysis Noncompaction cardiomyopathy Irregular vertebral endplates Humoral immunodeficiency Echolalia Single transverse palmar crease Hip contracture Thick nasal alae Hepatomegaly Epileptic spasms Prominent proximal interphalangeal joints Unilateral narrow palpebral fissure Prominent interphalangeal joints Curly eyelashes Clubbing of toes Excessive wrinkled skin Ventricular septal defect Broad distal phalanx of finger Eclabion Wide nasal base Abnormality of finger Enlarged joints Broad philtrum Abnormality of the testis Abnormal hair pattern Fatigue Edema Long palpebral fissure Sinusitis Partial agenesis of the corpus callosum Spondyloepiphyseal dysplasia Pleural effusion Eosinophilia Tachypnea Recurrent pneumonia Protruding tongue Meningitis Recurrent otitis media Intellectual disability, mild Cardiomegaly Premature birth Retinal dystrophy Tachycardia Lymphadenopathy Hypogonadism Agenesis of corpus callosum Splenomegaly Hepatosplenomegaly Low hanging columella Frontal bossing Microphakia Telecanthus Hydronephrosis Thrombocytopenia Respiratory insufficiency Ptosis Maternal hyperphenylalaninemia Reduced phenylalanine hydroxylase activity Phenylpyruvic acidemia Increased level of hippuric acid in urine Prenatal maternal abnormality Craniosynostosis Hyperphenylalaninemia Body odor Folate deficiency Mood changes Abnormal posturing Self-mutilation Poor coordination Iron deficiency anemia Scleroderma Low-set, posteriorly rotated ears Malabsorption Malnutrition Aplasia/Hypoplasia of the thumb Abnormality of female external genitalia Abnormality of neutrophils Rectal prolapse Sparse lateral eyebrow Abnormality of the antihelix Hypoparathyroidism Acute lymphoblastic leukemia Anal stenosis Submucous cleft hard palate Delayed cranial suture closure Abnormality of skin pigmentation Metatarsus adductus Cutis marmorata Hypoplastic toenails Aplasia/Hypoplasia of the corpus callosum Spina bifida occulta Abnormality of the fingernails Narrow face Wide anterior fontanel Broad thumb Sloping forehead Hypoplastic left heart Spontaneous abortion Arrhythmia Stereotypy Self-injurious behavior Nephroblastoma Pyloric stenosis Laryngomalacia Short chin Multicystic kidney dysplasia Bilateral single transverse palmar creases Aortic valve stenosis Sparse and thin eyebrow Congenital diaphragmatic hernia Tracheomalacia Narrow forehead Sleep disturbance Thick vermilion border Scarring Feeding difficulties in infancy Pes planus Umbilical hernia Upslanted palpebral fissure Inguinal hernia Supernumerary nipple Overweight Psychosis Abnormal heart morphology Coarctation of aorta Cerebral calcification Delayed myelination Nausea Abnormality of the cerebral white matter Pruritus Skin rash Abnormality of the liver Irritability Depressivity Dysphasia Headache Hypertonia Hyperreflexia Spasticity Self-biting Pain insensitivity Abnormal aortic morphology Subvalvular aortic stenosis Broad face Renal neoplasm Narrow nasal bridge Microretrognathia Aphasia Combined immunodeficiency Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Atopic dermatitis Glomerulonephritis Short nose Recurrent skin infections Leukopenia Vasculitis Bronchiectasis Sensory impairment Neutropenia Hemolytic anemia Hypertension Diabetes mellitus Respiratory tract infection Cone-shaped epiphyses of the phalanges of the hand Delayed puberty Hypoglycemia High forehead Diarrhea Respiratory distress Chronic rhinitis Red hair Rhinitis Hypothyroidism Spinal canal stenosis Congenital hypothyroidism Increased intracranial pressure Type I diabetes mellitus Hypoplasia of the maxilla Joint stiffness Skeletal dysplasia Mandibular prognathia Erythema Abnormality of the nervous system Progressive visual loss Ectodermal dysplasia Conjunctivitis Abnormality of the nail Skin ulcer Abnormality of the face Thin skin Split hand Nail dysplasia Hypodontia Dermal atrophy Oral cleft Anal atresia Nail dystrophy Prominent nasal bridge Camptodactyly Hyperhidrosis Syndactyly Oligodontia Melanocytic nevus Myoclonus Lacrimal duct stenosis Recurrent respiratory infections Dysarthria Adermatoglyphia Premature loss of permanent teeth Conical incisor Lacrimal duct atresia Nail pits Fingernail dysplasia Abnormality of dental morphology Breast hypoplasia Absent nipple Sparse axillary hair Split foot Alopecia of scalp Ectrodactyly Hypoplastic nipples Freckling Growth hormone deficiency Hypoplasia of penis Absent eyebrow Prominent coccyx Absent speech Intellectual disability, severe Abnormality of the septum pellucidum Talipes cavus equinovarus Prominent protruding coccyx Broad chin Thickened ears Caesarian section Small for gestational age Sleep-wake cycle disturbance Thickened helices Gait imbalance Depressed nasal tip Aplasia cutis congenita Spastic diplegia Flat occiput Osteoporosis Poor speech Chronic otitis media Abnormality of epiphysis morphology Overfolded helix Abnormality of the metacarpal bones Mutism Drooling Widely spaced teeth Joint dislocation Absence seizures Long eyelashes Smooth philtrum Short palpebral fissure Thick lower lip vermilion Status epilepticus Specific learning disability Full cheeks Triangular face Everted lower lip vermilion Thick eyebrow Oral-pharyngeal dysphagia Prominent supraorbital ridges Blue sclerae Truncal obesity Delayed menarche Immune dysregulation Concave nasal ridge Abnormality of the elbow Proportionate short stature Prematurely aged appearance External genital hypoplasia High pitched voice Hypoplastic nasal bridge Keratitis Reduced number of teeth Short long bone Hypercholesterolemia Increased body weight Hypohidrosis Abnormal lung morphology Depressed nasal ridge Aplasia/Hypoplasia involving the nose Lymphoid interstitial pneumonia Delayed gross motor development Long face Reduced tendon reflexes Pointed chin Cerebellar vermis hypoplasia Hip dysplasia Hirsutism Bulbous nose Joint hypermobility Abnormality of eye movement Low-set ears Macrotia Proptosis Cerebellar hypoplasia Constipation Kyphosis Dystonia Cerebellar atrophy Dysphagia Abnormality of thumb phalanx



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Hypertonia, related diseases and genetic alterations Autoimmunity and High forehead, related diseases and genetic alterations

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