Abnormal facial shape, and Atopic dermatitis

Diseases related with Abnormal facial shape and Atopic dermatitis

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


Top matches:

Medium match SINGLETON-MERTEN SYNDROME 2; SGMRT2


Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

Medium match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Medium match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE


Autosomal dominant hyper-IgE recurrent infection syndrome (OMIM ) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999).The autosomal recessive form shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement (Renner et al., 2004).See also TYK2 deficiency (OMIM ), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES and mendelian susceptibility to mycobacterial disease (MSMD ) (Minegishi et al., 2006).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE Is also known as hyper-ige syndrome, autosomal recessive|hies, autosomal recessive

Related symptoms:

  • Neoplasm
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

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Other less relevant 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 EVEN-PLUS SYNDROME


EVEN-PLUS syndrome is characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. The features overlap those reported in patients with CODAS syndrome ({600373}; Royer-Bertrand et al., 2015).

EVEN-PLUS SYNDROME Is also known as epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome|epiphyseal and vertebral dysplasia, microtia, and flat nose, plus associated malformations

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about EVEN-PLUS SYNDROME

Medium match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT


Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

Low 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 CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

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

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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Atopic dermatitis

Symptoms // Phenotype % cases
Inflammatory abnormality of the skin Very Common - Between 80% and 100% cases
Short stature Uncommon - Between 30% and 50% cases
Asthma Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Eczema Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Atopic dermatitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Abnormality of the dentition Scoliosis Recurrent skin infections Intellectual disability Global developmental delay Recurrent infections Immunodeficiency Growth delay Short neck Joint hypermobility Cough Hearing impairment Prominent forehead Failure to thrive High forehead Atrial septal defect Short nose Hypertelorism Gastroesophageal reflux Delayed skeletal maturation Deep philtrum Erythema Sparse hair Strabismus Coarse facial features Anteverted nares Dry skin Postnatal growth retardation Anemia Ichthyosis Abnormality of the skeletal system Hemolytic anemia Respiratory tract infection

Rare Symptoms - Less than 30% cases


Slow-growing hair Thickened helices Pruritus Dyspnea Hyperpigmentation of the skin Craniosynostosis Abnormal palate morphology Optic nerve hypoplasia Relative macrocephaly Osteopenia Failure to thrive in infancy Constipation Abnormality of refraction Aplasia/Hypoplasia of the eyebrow Abnormality of the pulmonary artery Frontal bossing Thick lower lip vermilion Neurodevelopmental delay Arnold-Chiari type I malformation Patent foramen ovale Abnormality of the testis Abnormal location of ears Vesicoureteral reflux Dysphagia Low posterior hairline Chronic otitis media Pectus excavatum Growth hormone deficiency High, narrow palate Cafe-au-lait spot Pulmonic stenosis Hypotrichosis Dolichocephaly Pectus carinatum Low-set, posteriorly rotated ears Hypertrophic cardiomyopathy Umbilical hernia Macrotia Posteriorly rotated ears Depressed nasal bridge Abnormality of cardiovascular system morphology Coarctation of aorta Vomiting Cardiomyopathy Hydrocephalus Ventriculomegaly Ventricular septal defect Downslanted palpebral fissures Macrocephaly Epicanthus Delayed speech and language development Feeding difficulties Low-set ears Ptosis Cryptorchidism Micrognathia Webbed neck Wheezing Bronchiectasis Brachydactyly Recurrent sinusitis Hypothyroidism Ataxia Seizures Neutropenia Abnormal lung morphology Recurrent fungal infections Lymphopenia Mitral regurgitation Recurrent sinopulmonary infections Autoimmune hemolytic anemia Neoplasm Otitis media Sinusitis Recurrent bacterial infections Eosinophilia Combined immunodeficiency Blindness Dysarthria Lymphoma Hyperkeratosis Edema Glaucoma Progressive visual loss Cardiomegaly Depressivity Narrow forehead Abnormality of the cardiovascular system Encephalopathy Dental malocclusion Myocardial infarction Premature birth Abnormal heart morphology Inguinal hernia Clinodactyly of the 5th finger Intestinal malrotation Fine hair Hemiparesis Full cheeks Cerebral atrophy Cutis laxa Kyphosis Oculomotor apraxia Sparse eyelashes Long philtrum Malar flattening Narrow palate Abnormality of the nail Open mouth Thrombocytopenia Aspiration Hernia Cerebral visual impairment Lymphedema Thickened skin Decreased body weight Nevus Proptosis Alopecia Irritability Abnormality of the cerebral white matter Nail dystrophy Neurological speech impairment Leukemia Abnormal cardiac septum morphology Scarring Feeding difficulties in infancy Genu valgum Abnormality of the kidney Abnormality of the eye Telecanthus Aggressive behavior Hydronephrosis EEG abnormality Hypermetropia Astigmatism Abnormal bleeding Thick vermilion border Polyhydramnios Abdominal distention Palmoplantar keratoderma Hyperhidrosis Sleep disturbance Hepatic steatosis Retinal dystrophy Autism Bruising susceptibility Cerebral cortical atrophy Bulbous nose Falls Long face Abnormality of skin pigmentation Peripheral axonal neuropathy Aplasia/Hypoplasia of the corpus callosum Delayed gross motor development Hemangioma Abnormal aortic valve morphology Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Hyperextensibility of the finger joints Subvalvular aortic stenosis Anterior creases of earlobe Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormal myocardium morphology Delayed CNS myelination Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Frontal balding Abnormality of the optic disc Woolly hair Morphological abnormality of the gastrointestinal tract Muscle weakness Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Puberty and gonadal disorders Abnormal tricuspid valve morphology Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Thick upper lip vermilion Short attention span Sleep apnea Scaling skin Large for gestational age Absent eyebrow Obsessive-compulsive behavior Heart murmur Cubitus valgus Melanocytic nevus Ectropion Pleural effusion Sparse eyebrow Malnutrition Bilateral ptosis Brittle hair Redundant skin Hyperextensible skin Poor suck Abnormality of vision Palmoplantar hyperkeratosis Behavioral abnormality Abnormality of the genitourinary system Open bite Hydroureter Abnormality of the gastrointestinal tract Underdeveloped supraorbital ridges Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Abnormal eyelash morphology Alopecia of scalp Poor appetite Anal stenosis Neurofibromas Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Splenomegaly Membranoproliferative glomerulonephritis Congestive heart failure Deeply set eye Recurrent fractures Wide nose Cerebral vasculitis Facial asymmetry Recurrent upper and lower respiratory tract infections Anaphylactic shock Skin rash Mandibular prognathia Skin ulcer Osteoporosis Sensorineural hearing impairment Pneumonia Cognitive impairment Wide nasal bridge Hyporeflexia Recurrent respiratory infections Prominent nose Hemivertebrae Hypoplastic helices Persistence of primary teeth Severe viral infections Onychomycosis Recurrent bacterial skin infections Eczematoid dermatitis T-cell lymphoma Fractures of the long bones B lymphocytopenia Decrease in T cell count Urticaria Red hair Increased IgE level Verrucae Hemihypertrophy Chronic mucocutaneous candidiasis Recurrent bronchitis Bronchitis Squamous cell carcinoma Dysplasia of the femoral head Dysplastic corpus callosum Recurrent candida infections Vasculitis Microtia Sensory impairment Abnormality of the pinna Neonatal hypotonia Brachycephaly Severe short stature Agenesis of corpus callosum Midface retrusion Anal atresia Narrow palpebral fissure Leukopenia Glomerulonephritis Severe combined immunodeficiency Allergic rhinitis Cortical myoclonus Autoimmune neutropenia Synophrys Flat face Vertebral clefting Epiphyseal dysplasia Anotia Coronal cleft vertebrae Bifid nasal tip Hypoplasia of the odontoid process Aplasia cutis congenita Metaphyseal dysplasia Overlapping toe Myoclonus Highly arched eyebrow Conductive hearing impairment Abnormality of the outer ear Recurrent urinary tract infections Depressed nasal ridge Renal hypoplasia Oligohydramnios Abnormality of the nervous system Hypodontia Recurrent Staphylococcus aureus infections Opportunistic infection Hypertonia Abnormality of coagulation Hiatus hernia Abnormality of the elbow Broad neck Aortic valve stenosis Natal tooth Freckling Pulmonary edema Calcification of the aorta Hypomagnesemia Right bundle branch block Hypoplastic toenails Overfolded helix Intrauterine growth retardation Nasal speech Coarse hair Diarrhea Fragile nails Abnormally large globe Arnold-Chiari malformation Abnormality of the nasal bridge Intellectual disability, severe Optic atrophy Myopia Hepatomegaly Cataract Muscular hypotonia Nystagmus Broad fingertip Enlarged cisterna magna Loose anagen hair Flexion contracture Vasculitis in the skin Abnormality of the intervertebral disk Dermal translucency Peripheral pulmonary artery stenosis Arthritis Redundant neck skin Increased intracranial pressure Infantile muscular hypotonia Lung abscess Osteomyelitis Retrognathia Erythroid dysplasia Hyperactivity Patent ductus arteriosus Recurrent otitis media Meningitis Hemiplegia Increased antibody level in blood Hypoglycemia Pericarditis Subarachnoid hemorrhage Recurrent lower respiratory tract infections Esophagitis Recurrent viral infections Impaired neutrophil chemotaxis Squamous cell carcinoma of the vulva Anal canal squamous carcinoma Folliculitis Protein-losing enteropathy Respiratory failure Cyanosis Abnormality of the fingernails Hypocalcemia Hoarse voice Lymphadenopathy Thin skin Sparse scalp hair Ventricular hypertrophy Dandy-Walker malformation Osteosarcoma Wide intermamillary distance Abnormal intestine morphology Thin vermilion border Carious teeth Myelodysplasia Erythroderma Severe intrauterine growth retardation Attention deficit hyperactivity disorder Superior pectus carinatum



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