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:

  • Autosomal recessive inheritance
  • Polyhydramnios
  • Pulmonary hypoplasia
  • Renal agenesis
  • Redundant skin


SOURCES: UMLS MONDO OMIM

More info about RENAL HYPODYSPLASIA/APLASIA 2; RHDA2

Low match SUPRAVALVULAR AORTIC STENOSIS; SVAS

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; SVAS Is also known as supravalvar aortic stenosis, eisenberg type;svas

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Abnormal facial shape
  • Milia
  • Edema


SOURCES: UMLS MONDO SCTID OMIM ICD10 DOID ORPHANET GARD

More info about SUPRAVALVULAR AORTIC STENOSIS; SVAS

Low match IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN

infections.

IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN Is also known as ;primary immunodeficiency syndrome with short stature

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Pneumonia
  • Immunodeficiency
  • Coarse facial features


SOURCES: ORPHANET MONDO UMLS MESH OMIM SCTID

More info about IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN

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Other less relevant matches:

Low match FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE; FILS

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, AND SHORT STATURE; FILS Is also known as ;fils syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Abnormal facial shape
  • Pain
  • Macrocephaly


SOURCES: OMIM MONDO ORPHANET UMLS

More info about FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE; FILS

Low match IMMUNODEFICIENCY 12; IMD12

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.

IMMUNODEFICIENCY 12; IMD12 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Growth delay
  • Abnormal facial shape
  • Delayed skeletal maturation
  • Pneumonia


SOURCES: UMLS ORPHANET OMIM MONDO

More info about IMMUNODEFICIENCY 12; IMD12

Low match ALAGILLE SYNDROME 2; ALGS2

ALAGILLE SYNDROME 2; ALGS2 Is also known as ;alagille-watson syndrome due to a notch2 point mutation; arteriohepatic dysplasia due to a notch2 point mutation; syndromic bile duct paucity due to a notch2 point mutation

Related symptoms:

  • Autosomal dominant inheritance
  • Hypertension
  • Atrial septal defect
  • Renal insufficiency
  • Acidosis


SOURCES: UMLS MONDO ORPHANET OMIM

More info about ALAGILLE SYNDROME 2; ALGS2

Low match PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC

PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC Is also known as paralysis periodica paramyotonica

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Pica
  • Motor delay


SOURCES: OMIM

More info about PARAMYOTONIA CONGENITA OF VON EULENBURG; PMC

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:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Pica
  • Hypertelorism


SOURCES: DOID UMLS MONDO OMIM

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

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:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: UMLS MONDO OMIM

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

Low match HYPERKALEMIC PERIODIC PARALYSIS; HYPP

The 2 dominantly inherited, clinically similar types of episodic flaccid generalized weakness, HOKPP and HYPP, are distinguished by the changes in serum potassium levels during paralytic attacks. An important clinical difference between the 2 entities is represented by the triggers of attacks of weakness, e.g., HYPP can be provoked by oral potassium administration, whereas this is a remedy for HOKPP. Concurrence of myotonia is found in HYPP but usually not in HOKPP patients (Jurkat-Rott et al., 2000).Jurkatt-Rott and Lehmann-Horn (2007) provided a review of the clinical features, pathogenesis, and therapeutic options for HYPP.

HYPERKALEMIC PERIODIC PARALYSIS; HYPP Is also known as adynamia episodica hereditaria with or without myotonia, gamstorp disease

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Microcephaly


SOURCES: OMIM

More info about HYPERKALEMIC PERIODIC PARALYSIS; HYPP

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

Symptoms // Phenotype % cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Motor delay Uncommon - Between 30% and 50% cases
Recurrent pneumonia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Autosomal dominant inheritance 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


Immunodeficiency Pneumonia Short stature Pica Pain

Rare Symptoms - Less than 30% cases


Depressed nasal bridge Meningitis Broad forehead Hypertelorism Recurrent infections Recurrent respiratory infections Growth delay Periodic paralysis Lid lag on downgaze Periodic hyperkalemic paralysis Loss of consciousness Myotonia Muscle stiffness Skeletal muscle hypertrophy Generalized muscle weakness Paralysis Constipation Infantile onset Feeding difficulties Muscle weakness Congenital onset Respiratory tract infection Generalized hypotonia Milia Pulmonic stenosis Peripheral pulmonary artery stenosis Intellectual disability Myopathy Laryngomalacia Dermal translucency Stridor Hyperkalemia Ketosis Abnormality of the thymus Clinodactyly Increased sensitivity to ionizing radiation Progressive muscle weakness Tics Skeletal muscle atrophy Inspiratory stridor Neonatal hypotonia Myalgia Bronchiolitis obliterans Elevated serum creatine phosphokinase Microcephaly Hand muscle weakness Decreased antibody level in blood Bronchiolitis Eczema Round face Everted lower lip vermilion Agammaglobulinemia Chronic bronchitis Retrognathia Failure to thrive Midface retrusion Muscular hypotonia of the trunk Short nose Anteverted nares Short chin High palate Epicanthus Wide anterior fontanel Low-set ears Emphysema Paradoxical myotonia Neonatal inspiratory stridor Mild global developmental delay Handgrip myotonia Prominent superficial veins Percussion myotonia Renal hypoplasia Cholestatic liver disease Coarse facial features Bone pain Telangiectasia Autoimmunity High forehead Oxycephaly Malar flattening Macrocephaly Recurrent bronchopulmonary infections Partial albinism IgM deficiency Hypopigmentation of hair Hypopigmentation of the skin Neutropenia Supravalvular aortic stenosis Opportunistic infection Arterial stenosis Peripheral arterial stenosis Pulmonary artery stenosis Hydrops fetalis Aortic valve stenosis Abnormality of the cardiovascular system Arrhythmia Edema Ureteral agenesis Potter facies Bilateral renal agenesis Redundant skin Renal agenesis Pulmonary hypoplasia Relative macrocephaly Telangiectases of the cheeks Posterior embryotoxon Renal insufficiency Renal tubular acidosis Long nose Pointed chin Cholestasis Renal dysplasia Tetralogy of Fallot Polyhydramnios Hematuria Triangular face Renal cyst Abnormality of the liver Proteinuria Acidosis Atrial septal defect Delayed skeletal maturation Hypertension Mastoiditis Gastritis Cheilitis Recurrent aphthous stomatitis Recurrent viral infections Esophagitis Abnormality of the gastrointestinal tract Gingivitis Clubbing Inflammatory abnormality of the skin Recurrent bacterial infections Bronchiectasis Osteoporosis Episodic flaccid weakness



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