Abnormal facial shape, and Abnormal lung morphology

Diseases related with Abnormal facial shape and Abnormal lung morphology

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


Top matches:

Low match RENAL HYPODYSPLASIA/APLASIA 2; RHDA2


Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT ), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014).For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (OMIM ).

Related symptoms:

  • Falls
  • Pulmonary hypoplasia
  • Renal agenesis
  • Renal dysplasia
  • Redundant skin


SOURCES: OMIM MENDELIAN

More info about RENAL HYPODYSPLASIA/APLASIA 2; RHDA2

Low match SUPRAVALVULAR AORTIC STENOSIS


SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.

SUPRAVALVULAR AORTIC STENOSIS Is also known as supravalvar aortic stenosis, eisenberg type|svas

Related symptoms:

  • Intellectual disability
  • Abnormal facial shape
  • Edema
  • Arrhythmia
  • Pulmonic stenosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about SUPRAVALVULAR AORTIC STENOSIS

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

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Other less relevant matches:

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

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 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

Low match LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS


LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18


Early infantile epileptic encephalopathy-18 is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, early onset of refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18; EIEE18

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Abnormal lung morphology

Symptoms // Phenotype % cases
Immunodeficiency Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Respiratory tract infection Hypertelorism Intellectual disability Short stature Pneumonia Generalized hypotonia

Rare Symptoms - Less than 30% cases


Agammaglobulinemia Decreased antibody level in blood Inflammatory abnormality of the skin Growth delay Epicanthus Meningitis Motor delay High forehead Aortic valve stenosis Edema Failure to thrive Feeding difficulties Wide anterior fontanel Chronic bronchitis Eczema Muscular hypotonia of the trunk Muscle weakness Midface retrusion Flexion contracture Abnormality of the dentition Abnormality of the skeletal system Calcification of the aorta Glaucoma Hyperkeratosis Arthritis Dry skin Mitral regurgitation Atopic dermatitis Pulmonary edema Emphysema Failure to thrive in infancy Falls Chromosome breakage Hyporeflexia Thick corpus callosum Cavum septum pellucidum Loss of consciousness Drooling Absence seizures Generalized-onset seizure Cyanosis Epileptic encephalopathy Focal-onset seizure Highly arched eyebrow EEG abnormality Encephalopathy Mild global developmental delay Absent speech Downslanted palpebral fissures Ptosis Seizures Bronchiolitis obliterans Round face Increased sensitivity to ionizing radiation Abnormality of the thymus Dermal translucency Bronchiolitis Prominent superficial veins Short chin Abnormality of the gastrointestinal tract Everted lower lip vermilion Peripheral arterial stenosis Bone pain Telangiectasia Broad forehead Autoimmunity Malar flattening Macrocephaly Pain Supravalvular aortic stenosis Arterial stenosis Peripheral pulmonary artery stenosis Pulmonary artery stenosis Telangiectases of the cheeks Hydrops fetalis Abnormality of the cardiovascular system Pulmonic stenosis Arrhythmia Potter facies Bilateral renal agenesis Unilateral renal agenesis Redundant skin Renal dysplasia Renal agenesis Relative macrocephaly Coarse facial features Retrognathia Esophagitis Short nose Anteverted nares High palate Low-set ears Mastoiditis Cheilitis Gastritis Recurrent aphthous stomatitis Recurrent viral infections Pulmonary hypoplasia Gingivitis Neutropenia Clubbing Recurrent bacterial infections Recurrent pneumonia Bronchiectasis Osteoporosis Delayed skeletal maturation Recurrent bronchopulmonary infections Partial albinism IgM deficiency Hypopigmentation of hair Hypopigmentation of the skin Laterally extended eyebrow



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Severe global developmental delay, related diseases and genetic alterations Ventricular septal defect and Corneal opacity, related diseases and genetic alterations Optic atrophy and Thrombocytopenia, related diseases and genetic alterations Myopathy and Ventricular septal defect, related diseases and genetic alterations Ptosis and Sparse scalp hair, related diseases and genetic alterations Hypertension and High myopia, related diseases and genetic alterations Ventricular septal defect and Dental malocclusion, related diseases and genetic alterations

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