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 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

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 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA


Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome characterized by an isolated and severe decrease in the number of platelets and megakaryocytes during the first years of life that develops into bone marrow failure with pancytopenia later in childhood.

CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA Is also known as camt|congenital amegakaryocytic thrombocytopenic purpura

Related symptoms:

  • Short stature
  • Scoliosis
  • Anemia
  • Short neck
  • Thrombocytopenia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA

Low match NOONAN SYNDROME 9; NS9


Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 9; NS9

Low match ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME


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/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME Is also known as morava-mehes syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Brachydactyly
  • Frontal bossing
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME

Low match SEVERE HYPOTONIA-PSYCHOMOTOR DEVELOPMENTAL DELAY-STRABISMUS-CARDIAC SEPTAL DEFECT SYNDROME


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.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Strabismus
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE HYPOTONIA-PSYCHOMOTOR DEVELOPMENTAL DELAY-STRABISMUS-CARDIAC SEPTAL DEFECT SYNDROME

Low match NOONAN SYNDROME 5; NS5


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 5; NS5

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 MENDELIAN

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

Low match AL-RAQAD SYNDROME; ARS


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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


Short neck Generalized hypotonia

Rare Symptoms - Less than 30% cases


Long face Neonatal hypotonia Prominent forehead Brachydactyly Ventricular septal defect Webbed neck Low-set ears Pulmonic stenosis Downslanted palpebral fissures Ptosis Epicanthus Hypertelorism Microcephaly Arrhythmia Cryptorchidism Neutropenia Anemia Motor delay Delayed speech and language development Seizures Open mouth Decreased fetal movement Macrocytic anemia Unilateral ulnar hypoplasia Severe muscular hypotonia Muscular hypotonia of the trunk Respiratory insufficiency due to muscle weakness Increased variability in muscle fiber diameter Increased mean corpuscular volume Myopathy Hypoplasia of the corpus callosum Strabismus Aplasia/Hypoplasia of the fibula Postaxial oligodactyly Dilation of lateral ventricles Aplasia/Hypoplasia of the ulna Lower limb asymmetry Short 5th finger Fibular hypoplasia Bilateral talipes equinovarus Hemangioma Round face Short foot Toe syndactyly Reticulocytopenia Midface retrusion Myopathic facies Heterotaxy Talipes equinovarus Cupped ear Sandal gap Hypopigmentation of the skin Inability to walk Flat face Unsteady gait Joint laxity Deeply set eye Thin upper lip vermilion Narrow mouth Absent speech Short nose Dry hair Spastic diplegia Brittle hair Hernia Narrow face Macroglossia Triangular face Nail dystrophy Protruding ear Upslanted palpebral fissure Spasticity Abnormality of the sternum Thick vermilion border Wide mouth Hypertrophic cardiomyopathy Mandibular prognathia Macrocephaly Malar flattening Erythroid hypoplasia Frontal bossing Atrioventricular block Abnormal thrombosis Abnormal left ventricle morphology Abnormal myocardium morphology Left ventricular noncompaction Restrictive cardiomyopathy Concave nasal ridge Wolff-Parkinson-White syndrome Left bundle branch block Pulmonary embolism Hypoplastic left heart Right bundle branch block Bundle branch block Ventricular arrhythmia Biventricular hypertrophy Ventricular tachycardia Exercise intolerance Hydrops fetalis Left ventricular hypertrophy Mitral regurgitation Atrial fibrillation Syncope Sudden cardiac death Tachycardia Autistic behavior Patent ductus arteriosus Congestive heart failure Respiratory distress Right ventricular failure Permanent atrial fibrillation Mutism Abnormal hemoglobin Hyperkeratosis pilaris Curly hair Mild short stature Sparse eyebrow Sparse and thin eyebrow Coarctation of aorta Feeding difficulties Hyperkeratosis Abnormal heart morphology Hyperactivity Megakaryocytopenia Amegakaryocytic thrombocytopenia Decreased skull ossification Left ventricular noncompaction cardiomyopathy Thrombocytosis Melanocytic nevus Bone marrow hypocellularity Abnormal form of the vertebral bodies Cerebellar vermis hypoplasia Pancytopenia Autism Coarse facial features Thrombocytopenia Aggressive behavior Scoliosis Abnormality of the fascia Noncompaction cardiomyopathy Hyperplasia of the maxilla



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Osteoporosis, related diseases and genetic alterations Brachydactyly and Abnormality of the pinna, related diseases and genetic alterations Hydrocephalus and Dehydration, related diseases and genetic alterations Skeletal muscle atrophy and Nephrolithiasis, related diseases and genetic alterations Ptosis and Iris coloboma, related diseases and genetic alterations Failure to thrive and Rheumatoid arthritis, related diseases and genetic alterations Abnormal facial shape and Abnormality of the eye, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more