Abnormal facial shape, and Recurrent respiratory infections

Diseases related with Abnormal facial shape and Recurrent respiratory infections

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


Top matches:

Low match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4


Immunodeficiency-centromeric instability-facial anomalies syndrome-4 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4; ICF4

Low match FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME


Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.

FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME Is also known as fils syndrome

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Macrocephaly
  • Malar flattening


SOURCES: ORPHANET OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME

Low match PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY


Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.

PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY Is also known as primary immunodeficiency syndrome with short stature

Related symptoms:

  • Short stature
  • Immunodeficiency
  • Coarse facial features
  • Neutropenia
  • Hypopigmentation of the skin


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY

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Other less relevant matches:

Low match COMBINED IMMUNODEFICIENCY DUE TO MALT1 DEFICIENCY


Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Immunodeficiency
  • Delayed skeletal maturation
  • Pneumonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO MALT1 DEFICIENCY

Low match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2


Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

Low match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3


Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3

Low match BONE MARROW FAILURE SYNDROME 4; BMFS4


BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative (summary by Bahrami et al., 2017).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 4; BMFS4

Low match JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT


Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome is a life-threatening multiorgan disorder which develops in the first months of life, presenting with respiratory distress and proteinuria in the nephrotic range, and leading to severe interstitial lung disease and renal failure. Some patients additionally display cutaneous alterations, ranging from blistering and skin erosions to an epidermolysis bullosa-like phenotype, with toe nail dystrophy and sparse hair.

JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT Is also known as jeb-rr|jeb with respiratory and renal involvement|congenital interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome|congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome|congenital ilneb syndrome|conge

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Muscular hypotonia
  • Fever
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH RESPIRATORY AND RENAL INVOLVEMENT

Low match CHITAYAT SYNDROME; CHYTS


Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about CHITAYAT SYNDROME; CHYTS

Low match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION


Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION Is also known as spg49|autosomal recessive spastic paraplegia type 49|hsan due to tecpr2 mutation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Recurrent respiratory infections

Symptoms // Phenotype % cases
Respiratory tract infection Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Microcephaly Agammaglobulinemia Short stature Growth delay Round face Pneumonia Low-set ears Depressed nasal bridge Decreased antibody level in blood Epicanthus

Rare Symptoms - Less than 30% cases


Recurrent pneumonia Neutropenia Interstitial pulmonary abnormality Motor delay Recurrent upper respiratory tract infections Anteverted nares Midface retrusion Short nose Respiratory distress Retrognathia Meningitis Hearing impairment Generalized hypotonia Dyspnea Proptosis Polyhydramnios Finger syndactyly Clinodactyly Pectus excavatum Syndactyly Long philtrum Brachydactyly Broad neck Junctional split Glomerulosclerosis Fine hair Sparse scalp hair Abnormal lung morphology Sparse and thin eyebrow Gynecomastia Sparse eyelashes Hypoalbuminemia Neonatal respiratory distress Respiratory acidosis Focal segmental glomerulosclerosis Ectopic kidney Fragile skin Tubular atrophy Onycholysis Decreased glomerular filtration rate Thick vermilion border Crossed fused renal ectopia Abnormality of the foot Abnormality of the hand Highly arched eyebrow Spastic paraplegia Hypomimic face Areflexia Brachycephaly Gait ataxia Gastroesophageal reflux Apnea Paraplegia Cerebellar atrophy Dysmetria Full cheeks Dental crowding Spastic gait Aspiration Low anterior hairline Cerebral atrophy Hypoplasia of the corpus callosum Broad thumb Abnormality of digit Tachypnea Mild short stature Short middle phalanx of finger Hallux valgus Cyanosis Exertional dyspnea Tracheomalacia Short neck Short columella Bronchomalacia Parietal bossing Bronchospasm Intercostal retractions Seizures Dysarthria Nephrotic syndrome Neurodevelopmental delay Abnormal blistering of the skin Delayed skeletal maturation High palate Mastoiditis Cheilitis Gastritis Recurrent aphthous stomatitis Recurrent viral infections Abnormality of the gastrointestinal tract Esophagitis Gingivitis Clubbing Recurrent bacterial infections Bronchiectasis Inflammatory abnormality of the skin Osteoporosis Recurrent bronchopulmonary infections Short chin Telangiectasia Pain Macrocephaly Malar flattening High forehead Autoimmunity Broad forehead Bone pain Partial albinism Relative macrocephaly Telangiectases of the cheeks Coarse facial features Hypopigmentation of the skin Hypopigmentation of hair IgM deficiency Everted lower lip vermilion Chronic bronchitis Narrow chest Fever Rhizomelia Lymphopenia Leukopenia Upper limb undergrowth Noncompaction cardiomyopathy Muscular hypotonia Renal insufficiency Choanal atresia Prominent forehead Narrow mouth Macrotia Proteinuria Erythema Nail dystrophy Gingival overgrowth Eczema Scoliosis Flat face Strabismus Cryptorchidism Intrauterine growth retardation Hypospadias Polydactyly Conductive hearing impairment Tapetoretinal degeneration Dry skin Hypoplastic ischia Cataract Anemia Abnormality of the skeletal system Cardiomyopathy Thrombocytopenia Central apnea



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