Abnormal facial shape, and Abnormal cardiac septum morphology

Diseases related with Abnormal facial shape and Abnormal cardiac septum morphology

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


Top matches:

Low match NOONAN SYNDROME 5; NS5

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Short stature
  • Abnormal facial shape
  • Short neck


SOURCES: GARD OMIM DOID UMLS MESH MONDO

More info about NOONAN SYNDROME 5; NS5

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:

  • Autosomal dominant inheritance
  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: MONDO MESH UMLS OMIM

More info about DIAMOND-BLACKFAN ANEMIA 4; DBA4

Low match TATTON-BROWN-RAHMAN SYNDROME; TBRS

Tatton-Brown-Rahman syndrome is a disorder characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TATTON-BROWN-RAHMAN SYNDROME; TBRS Is also known as ;dnmt3a-related overgrowth syndrome; tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Scoliosis
  • Macrocephaly


SOURCES: ORPHANET MONDO OMIM UMLS

More info about TATTON-BROWN-RAHMAN SYNDROME; TBRS

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Other less relevant matches:

Low match CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM

Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017).

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Abnormal facial shape
  • Flexion contracture
  • Ventricular septal defect


SOURCES: OMIM

More info about CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM

Low match LEFT VENTRICULAR NONCOMPACTION 1; LVNC1

Left ventricular noncompaction (LVNC) is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle (Sasse-Klaassen et al., 2004). The mechanistic basis is thought to be an intrauterine arrest of myocardial development with lack of compaction of the loose myocardial meshwork. LVNC may occur in isolation or in association with congenital heart disease. Distinctive morphologic features can be recognized on 2-dimensional echocardiography (Kurosaki et al., 1999). Noncompaction of the ventricular myocardium is sometimes referred to as spongy myocardium. Stollberger et al. (2002) commented that the term 'isolated LVNC,' meaning LVNC without coexisting cardiac abnormalities, is misleading, because additional cardiac abnormalities are found in nearly all patients with LVNC. Genetic Heterogeneity of Left Ventricular NoncompactionA locus for autosomal dominant left ventricular noncompaction has been identified on chromosome 11p15 (LVNC2 ).LVNC3 (see {605906}) is caused by mutation in the LDB3 gene (OMIM ) on chromosome 10q23. LVNC4 (see {613424}) is caused by mutation in the ACTC1 gene (OMIM ) on chromosome 15q14. LVNC5 (see {613426}) is caused by mutation in the MYH7 gene (OMIM ) on chromosome 14q12. LVNC6 (see {601494}) is caused by mutation in the TNNT2 gene (OMIM ) on chromosome 1q32. LVNC7 (OMIM ) is caused by mutation in the MIB1 gene (OMIM ) on chromosome 18q11. LVNC8 (OMIM ) is caused by mutation in the PRDM16 gene (OMIM ) on chromosome 1p36. LVNC9 (see {611878}) is caused by mutation in the TPM1 gene (OMIM ) on chromosome 15q22. LVNC10 (OMIM ) is caused by mutation in the MYBPC3 gene (OMIM ) on chromosome 11p11.LVNC can also occur as part of an X-linked disorder, Barth syndrome (OMIM ), caused by mutation in the TAZ gene (OMIM ) on chromosome Xq28.

LEFT VENTRICULAR NONCOMPACTION 1; LVNC1 Is also known as left ventricular noncompaction 1 with or without congenital heart defects;lvnc; left ventricular hypertrabeculation; spongy myocardium

Related symptoms:

  • Autosomal dominant inheritance
  • Pica
  • Abnormal facial shape
  • Milia
  • Tics


SOURCES: UMLS OMIM MONDO ORPHANET

More info about LEFT VENTRICULAR NONCOMPACTION 1; LVNC1

Low match AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder expressed in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies (Muraoka et al., 1997).King et al. (2005) proposed a new classification of CAMT based on the course and outcome of the disease, as exemplified by 20 patients: CAMT type I (11 patients) was characterized by early onset of severe pancytopenia, decreased bone marrow activity, and very low platelet counts. CAMT type II (9 patients) was somewhat milder and characterized by transient increases of platelet counts up to nearly normal values during the first year of life and an onset of bone marrow failure at age 3 or later.

AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT Is also known as ;camt; congenital amegakaryocytic thrombocytopenic purpura

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Scoliosis
  • Anemia
  • Short neck


SOURCES: ORPHANET NCIT UMLS DOID MESH OMIM SCTID GARD MONDO

More info about AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL; CAMT

Low match ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY

Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.

ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY Is also known as ;morava-mehes syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Short stature
  • Growth delay
  • Brachydactyly
  • Frontal bossing


SOURCES: MONDO MESH UMLS OMIM ORPHANET SCTID

More info about ULNAR/FIBULAR RAY DEFECT AND BRACHYDACTYLY

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 HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Strabismus
  • Motor delay


SOURCES: UMLS ORPHANET OMIM MONDO

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION; IHPMR

Low match X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE

Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET

More info about X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE

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

Symptoms // Phenotype % cases
Autosomal dominant inheritance Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Rare Symptoms - Less than 30% cases


Seizures Global developmental delay Autosomal recessive inheritance Triangular face Broad forehead Long face Round face Pointed chin Intellectual disability Neutropenia Hernia Anemia Short neck Hematuria Spastic diplegia Renal hypoplasia Renal cyst Tetralogy of Fallot Pulmonic stenosis Abnormality of the liver Proteinuria Acidosis Renal dysplasia Renal insufficiency Hypertension Unilateral ulnar hypoplasia Aplasia/Hypoplasia of the fibula Postaxial oligodactyly Long nose Cupped ear Aplasia/Hypoplasia of the ulna Lower limb asymmetry Short 5th finger Fibular hypoplasia Bilateral talipes equinovarus Hemangioma Short foot Toe syndactyly Prominent forehead Midface retrusion Cholestasis Posterior embryotoxon Renal tubular acidosis Open mouth Macroglossia Protruding ear Upslanted palpebral fissure Epicanthus Narrow face Spasticity Microcephaly Dilation of lateral ventricles Myopathic facies Increased variability in muscle fiber diameter Severe muscular hypotonia Respiratory insufficiency due to muscle weakness Decreased fetal movement Nail dystrophy Neonatal hypotonia Muscular hypotonia of the trunk Hypoplasia of the corpus callosum Brittle hair Delayed speech and language development Talipes equinovarus Myopathy Cryptorchidism Motor delay Strabismus Generalized hypotonia Cholestatic liver disease Peripheral pulmonary artery stenosis Malar flattening Pancytopenia Frontal bossing Flexion contracture Milia Pica Narrow maxilla Narrow nose Short chin Abnormality of the foot Joint laxity Abnormal heart morphology Abnormality of the genital system Pectus excavatum Abnormality of cardiovascular system morphology Short nose Abnormality of the skeletal system Failure to thrive Arrhythmia Horizontal eyebrow Narrow palpebral fissure Overgrowth Tall stature Blepharophimosis Umbilical hernia Macrocephaly Erythroid hypoplasia Reticulocytopenia Macrocytic anemia Abnormality of the sternum Webbed neck Hypertrophic cardiomyopathy Tics Congestive heart failure Brachydactyly Left bundle branch block Megakaryocytopenia Amegakaryocytic thrombocytopenia Abnormal hemoglobin Decreased skull ossification Thrombocytosis Melanocytic nevus Bone marrow hypocellularity Cerebellar vermis hypoplasia Abnormal form of the vertebral bodies Coarse facial features Thrombocytopenia Left ventricular noncompaction cardiomyopathy Permanent atrial fibrillation Left ventricular noncompaction Respiratory distress Concave nasal ridge Right bundle branch block Bundle branch block Hypoplastic left heart Ventricular arrhythmia Atrioventricular block Ventricular tachycardia Atrial fibrillation Left ventricular hypertrophy Mitral regurgitation Sudden cardiac death Tachycardia Patent ductus arteriosus Dry hair



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Other signs and symptoms that you may find interesting

Intellectual disability, severe and Proptosis, related diseases and genetic alterations Congestive heart failure and Corneal dystrophy, related diseases and genetic alterations Myopathy and Sensory impairment, related diseases and genetic alterations Spasticity and Frontal bossing, related diseases and genetic alterations Cleft palate and Brachycephaly, related diseases and genetic alterations