Abnormal facial shape, and Asthma

Diseases related with Abnormal facial shape and Asthma

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


Top matches:

Low match SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Low 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

Low match SECKEL SYNDROME 9; SCKL9


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

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Other less relevant matches:

Low match POIKILODERMA WITH NEUTROPENIA


Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

Low match TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

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

Low 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 ALG9-CDG


ALG9-CDG is a form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis (see this term). The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).

ALG9-CDG Is also known as cdg syndrome type il|cdg-il|carbohydrate deficient glycoprotein syndrome type 1l|cdg il|cdgil|congenital disorder of glycosylation type 1l|cdg1l|mannosyltransferase 7-9 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG9-CDG

Low match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Asthma

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Eczema Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Recurrent infections Immunodeficiency Anemia Inflammatory abnormality of the skin Short stature Abnormal lung morphology Frontal bossing Recurrent respiratory infections Hepatomegaly Low-set ears Short nose Splenomegaly Intellectual disability Skin rash Atrial septal defect Hepatosplenomegaly Intrauterine growth retardation Growth delay Malar flattening Atopic dermatitis Increased antibody level in blood Recurrent skin infections High palate Mandibular prognathia Otitis media Generalized hypotonia Erythema Abnormality of the skeletal system Respiratory failure Chronic lung disease

Rare Symptoms - Less than 30% cases


Abnormality of the dentition Respiratory tract infection Cutaneous photosensitivity Palmoplantar keratoderma Neutropenia Carious teeth Cough Hyperkeratosis Proptosis Thrombocytopenia Pneumonia Midface retrusion Hypothyroidism Clitoral hypertrophy Decreased fetal movement Convex nasal ridge Recurrent pneumonia Wide mouth Diabetes mellitus Skin ulcer Red hair Skeletal dysplasia Prominent forehead Obesity Delayed speech and language development Pruritus Coarse facial features Lymphoma Abnormal cardiac septum morphology Diarrhea Brachydactyly Cognitive impairment Scoliosis Hearing impairment Seizures Hydrops fetalis Small for gestational age Edema Recurrent sinusitis Recurrent otitis media Combined immunodeficiency Osteomyelitis Recurrent lower respiratory tract infections Eosinophilia Recurrent fungal infections Recurrent bacterial infections Microcephaly Type I diabetes mellitus Micrognathia Ventricular septal defect Sinusitis Recurrent sinopulmonary infections Hemolytic anemia Hepatitis T-cell lymphoma Hemihypertrophy Verrucae Increased IgE level Decrease in T cell count Abnormality of the middle ear Rhinitis Persistence of primary teeth B lymphocytopenia Spinal canal stenosis Fractures of the long bones Constipation Recurrent bronchitis White forelock Concave nasal ridge Hypoplasia of the zygomatic bone Eczematoid dermatitis Recurrent bacterial skin infections Onychomycosis Severe viral infections Recurrent Staphylococcus aureus infections Recurrent candida infections Opportunistic infection Lung abscess Anal canal squamous carcinoma Chronic mucocutaneous candidiasis Bronchitis Crusting erythematous dermatitis Chronic rhinitis Osteoporosis Dysphagia Osteopenia Deeply set eye Craniosynostosis Diffuse telangiectasia Facial hirsutism Wide nasal bridge Facial asymmetry Joint hypermobility Strabismus Wide nose Poliosis Fair hair Recurrent fractures Prominent nose Thick lower lip vermilion Blue irides Impaired neutrophil chemotaxis Cone-shaped epiphyses of the phalanges of the hand Hemivertebrae Urticaria Chronic otitis media Squamous cell carcinoma Squamous cell carcinoma of the vulva Lymphedema Muscular hypotonia High forehead Elevated erythrocyte sedimentation rate Ptosis Petechiae Psoriasiform dermatitis Systemic lupus erythematosus Visual impairment Reduced bone mineral density Downslanted palpebral fissures Intellectual disability, severe Vomiting Intellectual disability, mild Abnormality of metabolism/homeostasis Elevated hepatic transaminase Aplasia/Hypoplasia of the skin Abnormality of the fingernails Papule Genu valgum Arachnodactyly Dry skin Hirsutism Dehydration Generalized hirsutism Low posterior hairline Bilateral single transverse palmar creases Depressed nasal ridge Low anterior hairline Thin skin Abnormality of the hip bone Delayed CNS myelination Hyperreflexia Esotropia Cerebellar atrophy Kyphosis Abnormality of retinal pigmentation Long philtrum Encephalopathy Delayed skeletal maturation Brachycephaly Hip dislocation Poor speech Hepatic failure Ascites Brain atrophy Delayed myelination Wide intermamillary distance Nonimmune hydrops fetalis Epileptic encephalopathy Prolonged neonatal jaundice Broad thumb Lipodystrophy Abnormality of the immune system Tricuspid regurgitation Mild short stature Cutis marmorata Global brain atrophy Pericardial effusion Aplasia cutis congenita Inverted nipples Central hypotonia Congenital hypothyroidism Membranoproliferative glomerulonephritis Cone-shaped epiphysis Atrophic scars Multicystic kidney dysplasia Cortical gyral simplification Scaphocephaly Pulmonary artery hypoplasia Dolichocephaly Cataract Autoimmunity Camptodactyly Alopecia Nail dystrophy Conjunctivitis Myelodysplasia Wheezing Recurrent urinary tract infections Blepharitis Osteosarcoma Poikiloderma Subungual hyperkeratosis Patent ductus arteriosus Hydronephrosis Abnormality of the kidney Short philtrum Synophrys Cirrhosis Thin vermilion border Triangular face Abnormal bleeding Narrow face Pachygyria Coarctation of aorta Cerebral vasculitis Neoplasm Interstitial pneumonitis Meningitis Prominent occiput Hemiplegia Relative macrocephaly Autoimmune hemolytic anemia Pericarditis Subarachnoid hemorrhage Abnormal intestine morphology Esophagitis Recurrent viral infections Recurrent upper and lower respiratory tract infections Hypertrichosis Anaphylactic shock Short chin Chronic diarrhea Talipes equinovarus Ventriculomegaly Respiratory distress Hernia Malabsorption Polyhydramnios Protruding ear Long face Ambiguous genitalia Congenital diaphragmatic hernia Oligohydramnios Pancytopenia Short metatarsal Anteverted nares Vasculitis Narrow palpebral fissure Leukopenia Glomerulonephritis Severe combined immunodeficiency Allergic rhinitis Vasculitis in the skin Autoimmune neutropenia Cortical myoclonus Cryptorchidism Hypertension Epicanthus Hypospadias Bronchiectasis Clinodactyly of the 5th finger Hyperactivity Autism Joint stiffness Small hand Hypoplasia of the maxilla Round face Short metacarpal Underdeveloped nasal alae Osteoarthritis Short phalanx of finger Accelerated skeletal maturation Increased intracranial pressure Lymphopenia Sensory impairment Telangiectasia Functional respiratory abnormality Hepatic fibrosis Wide anterior fontanel Decreased liver function Situs inversus totalis Cutis laxa Deep philtrum Poor suck Patent foramen ovale Dextrocardia Premature skin wrinkling Biventricular hypertrophy Micronodular cirrhosis Infra-orbital crease Macrocephaly Abnormality of the clitoris Increased serum bile acid concentration Abnormality of glutamine metabolism Posteriorly rotated ears Ataxia Sensorineural hearing impairment Clinodactyly Dysarthria Hyporeflexia Myoclonus Gastroesophageal reflux Conductive hearing impairment Abnormality of the nervous system Recurrent cystitis



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