Abnormal facial shape, and Abnormal heart morphology

Diseases related with Abnormal facial shape and Abnormal heart morphology

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


Top matches:

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Abnormal facial shape
  • Cognitive impairment


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6; MRT6

Low match POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6


Related symptoms:

  • Abnormal facial shape
  • Hyperhidrosis
  • Postaxial hand polydactyly
  • Broad phalanges of the 5th finger


SOURCES: OMIM MENDELIAN

More info about POLYDACTYLY, POSTAXIAL, TYPE A6; PAPA6

Low match DIAMOND-BLACKFAN ANEMIA 4; DBA4


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Atrial septal defect


SOURCES: MESH OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 4; DBA4

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Other less relevant matches:

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD50

Low match NEPHRONOPHTHISIS 20; NPHP20


Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by Macia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Renal insufficiency
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about NEPHRONOPHTHISIS 20; NPHP20

Low match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27


CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (OMIM ).An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (OMIM ), and MYL3 (OMIM ) genes has also been reported in 1 family.

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • High palate
  • Cardiomyopathy
  • Edema


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27

Low match X-LINKED ACROGIGANTISM DUE TO XQ26 MICRODUPLICATION


X-linked acrogigantism (XLAG), due to microduplications of chromosome Xq26.3, is characterized by excessive growth, usually beginning during the first year of life in previously normal infants. The overgrowth is caused by growth hormone (GH1 ) hypersecretion from pituitary hyperplasia and/or a pituitary macroadenoma. XLAG can occur as a sporadic condition or present as familial isolated pituitary adenomas (FIPAs) in acrogigantism kindreds (Beckers et al., 2015).

X-LINKED ACROGIGANTISM DUE TO XQ26 MICRODUPLICATION Is also known as x-linked acrogigantism|familial infantile gigantism due to xq26 microduplication|familial infantile gigantism due to dup(x)q(26)|xlag|chromosome xq26 microduplication syndrome|x-lag (x-linked acrogigantism) due to dup(x)q(26)

Related symptoms:

  • Neoplasm
  • Coarse facial features
  • Overgrowth
  • Ventricular hypertrophy
  • Tall stature


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED ACROGIGANTISM DUE TO XQ26 MICRODUPLICATION

Low match POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2


Type 2 ADPKD is linked to gene mutation at the PKD2 locus on the long arm of CHROMOSOME 4.

POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2 Is also known as polycystic kidney disease, adult, type ii|apkd2

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Midface retrusion
  • Respiratory failure
  • Abnormality of the kidney


SOURCES: OMIM MENDELIAN

More info about POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE; PKD2

Low match FG SYNDROME 2; FGS2


Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

Low match LEFT VENTRICULAR NONCOMPACTION


Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.

LEFT VENTRICULAR NONCOMPACTION Is also known as spongy myocardium|lvnc|left ventricular hypertrabeculation|left ventricular noncompaction 1 with or without congenital heart defects

Related symptoms:

  • Abnormal facial shape
  • Ventricular septal defect
  • Respiratory distress
  • Congestive heart failure
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION

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

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hydrops fetalis Rare - less than 30% cases
Left ventricular noncompaction Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Hyperactivity Ventricular arrhythmia Renal insufficiency Generalized hypotonia Left ventricular hypertrophy Ventricular hypertrophy Stage 5 chronic kidney disease Renal cyst Situs inversus totalis Arrhythmia Delayed speech and language development Congestive heart failure Atrial septal defect Global developmental delay Growth delay Renal cortical cysts Oligohydramnios Protruding ear Abnormality of the pinna Neonatal hypotonia Prominent forehead Abnormality of the kidney Facial asymmetry Hematuria Nephropathy Multicystic kidney dysplasia Recurrent urinary tract infections Multiple glomerular cysts Constipation Frontal bossing Macrocephaly Failure to thrive Polycystic kidney dysplasia Dextrocardia Elevated serum creatinine Relative macrocephaly Hepatic cysts Hypertelorism Patent ductus arteriosus Anteriorly placed anus Hypoplastic left heart Noncompaction cardiomyopathy Left ventricular noncompaction cardiomyopathy Permanent atrial fibrillation Biventricular hypertrophy Right ventricular failure Abnormal thrombosis Abnormal left ventricle morphology Abnormal myocardium morphology Restrictive cardiomyopathy Concave nasal ridge Wolff-Parkinson-White syndrome Left bundle branch block Pulmonary embolism Right bundle branch block Large forehead Bundle branch block Atrioventricular block Ventricular tachycardia Exercise intolerance Mitral regurgitation Atrial fibrillation Syncope Sudden cardiac death Tachycardia Midface retrusion Respiratory distress Ventricular septal defect Underdeveloped superior crus of antihelix Frontal upsweep of hair Respiratory failure Acanthosis nigricans Hypertension Erythroid hypoplasia Nephritis Polydactyly Rod-cone dystrophy Scoliosis Heterotaxy Mutism Autistic behavior Aggressive behavior Autism Motor delay Feeding difficulties Reticulocytopenia Tubulointerstitial nephritis Increased mean corpuscular volume Macrocytic anemia Neutropenia Hernia Anemia Broad phalanges of the 5th finger Postaxial hand polydactyly Hyperhidrosis Myoclonus Dystonia Tremor Cognitive impairment Nephronophthisis Renal fibrosis Snoring Coarse facial features Body odor Pituitary adenoma Long foot Growth hormone excess Hypopituitarism Polyphagia Large hands Precocious puberty Sleep apnea Accelerated skeletal maturation Tall stature Overgrowth Neoplasm Low-set ears Multiple pterygia Right ventricular hypertrophy Tricuspid regurgitation Pterygium Cardiac arrest Cardiomegaly Dilated cardiomyopathy Hypertrophic cardiomyopathy Depressivity Edema Cardiomyopathy High palate Abnormality of the fascia



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