Abnormal facial shape, and Arrhythmia

Diseases related with Abnormal facial shape and Arrhythmia

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


Top matches:

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 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 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

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Other less relevant matches:

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 PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A


The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Low-set ears
  • Hepatomegaly
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A

Low match POLYVALVULAR HEART DISEASE SYNDROME


Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

Low match UROFACIAL SYNDROME 1; UFS1


The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010). Genetic Heterogeneity of Urofacial SyndromeUrofacial syndrome-2 (UFS2 ) is caused by mutation in the LRIG2 gene (OMIM ) on chromosome 1p13.

UROFACIAL SYNDROME 1; UFS1 Is also known as facial palsy, partial, with urinary abnormalities|ochoa syndrome|hydronephrosis with peculiar facial expression|urofacial syndrome|inverted smile and occult neuropathic bladder|ufs

Related symptoms:

  • Abnormal facial shape
  • Pain
  • Cryptorchidism
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about UROFACIAL SYNDROME 1; UFS1

Low match CAP MYOPATHY


Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.

CAP MYOPATHY Is also known as cap disease

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • High palate
  • Motor delay
  • Myopathy


SOURCES: MESH ORPHANET MENDELIAN

More info about CAP MYOPATHY

Low match CRISPONI SYNDROME


Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

Related symptoms:

  • Seizures
  • Scoliosis
  • Micrognathia
  • Cognitive impairment
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about CRISPONI SYNDROME

Low match JUVENILE HYALINE FIBROMATOSIS


Juvenile hyaline fibromatosis (JHF) is a rare bone dysplasia, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term).

JUVENILE HYALINE FIBROMATOSIS Is also known as puretic syndrome|murray-puretic-drescher syndrome|hyalinosis, systemic

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Pain
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HYALINE FIBROMATOSIS

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Arrhythmia

Symptoms // Phenotype % cases
High palate Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Hydrops fetalis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Pulmonic stenosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Flexion contracture Generalized hypotonia Ptosis Short stature Dilatation Ventricular arrhythmia Wolff-Parkinson-White syndrome Seizures Long face Mitral valve prolapse Pain Respiratory distress Left ventricular noncompaction Tricuspid regurgitation Micrognathia Sudden cardiac death Cardiac arrest Aortic valve stenosis Congestive heart failure Hypertrophic cardiomyopathy Left ventricular hypertrophy Edema Dysuria Easy fatigability Nasal speech Gowers sign Toe walking Increased variability in muscle fiber diameter Generalized amyotrophy Difficulty climbing stairs Central hypoventilation Difficulty running Urinary retention Pyelonephritis Neurogenic bladder Aortic root aneurysm Lower limb amyotrophy Enuresis Thoracic scoliosis Reduced tendon reflexes Poor head control Sinus tachycardia Urethral valve Urethral obstruction Encopresis Enuresis nocturna Abnormal facial expression Nocturnal lagophthalmos Muscle weakness Mild proteinuria Motor delay Facial grimacing Myopathy Pectus excavatum Pes planus Urethral stenosis Facial palsy Lower limb muscle weakness Lumbar hyperlordosis Frequent falls Pes valgus Respiratory insufficiency Abnormality of muscle fibers Skin ulcer Coarse facial features Joint stiffness Papule Abnormality of the face Subcutaneous nodule Thickened skin Chronic diarrhea Gingival overgrowth Abnormality of the hair Elbow flexion contracture Osteoporosis Osteolysis Growth abnormality Aplasia/Hypoplasia of the skin Abnormality of the skull Severe failure to thrive Abnormality of the gastrointestinal tract Gingival fibromatosis Abnormal diaphysis morphology Intractable diarrhea Osteopenia Recurrent infections Reduced systolic function Hyperhidrosis Fatiguable weakness of proximal limb muscles Scoliosis Cognitive impairment Feeding difficulties Anteverted nares Acute kidney injury Hypertonia Kyphosis Long philtrum Narrow mouth Diarrhea Camptodactyly of finger Wide nose Full cheeks Limitation of joint mobility Hypohidrosis Malignant hyperthermia Large face Neoplasm Failure to thrive Skeletal muscle atrophy Keratoconjunctivitis sicca Constipation Hydroureter Abnormal left ventricle morphology Bundle branch block Right bundle branch block Hypoplastic left heart Pulmonary embolism Left bundle branch block Concave nasal ridge Restrictive cardiomyopathy Abnormal myocardium morphology Abnormal thrombosis Ventricular tachycardia Right ventricular failure Biventricular hypertrophy Permanent atrial fibrillation Left ventricular noncompaction cardiomyopathy Noncompaction cardiomyopathy Abnormality of the fascia Global developmental delay Hypertelorism Epicanthus Atrioventricular block Exercise intolerance Downslanted palpebral fissures Dilated cardiomyopathy Abnormality of the cardiovascular system Pulmonary artery stenosis Peripheral arterial stenosis Peripheral pulmonary artery stenosis Arterial stenosis Supravalvular aortic stenosis Cardiomyopathy Depressivity Cardiomegaly Mitral regurgitation Ventricular hypertrophy Pterygium Right ventricular hypertrophy Multiple pterygia Ventricular septal defect Patent ductus arteriosus Tachycardia Syncope Atrial fibrillation Macrocephaly Short neck Polyuria Proteinuria Abnormality of the skin Dental crowding Abnormal heart valve morphology Cryptorchidism Hypertension Fever Renal insufficiency Hydronephrosis Stage 5 chronic kidney disease Joint hyperflexibility Nephropathy Hematuria Sepsis Vesicoureteral reflux Urinary incontinence Recurrent urinary tract infections Polydipsia Clubbing Keratitis Prominent nose Dolichocephaly Atrial septal defect Areflexia Prominent forehead Mandibular prognathia Wide mouth Thick vermilion border Webbed neck Abnormality of the sternum Hepatomegaly Wide nasal bridge High forehead Broad forehead Feeding difficulties in infancy Flat face Bradycardia Polycystic kidney dysplasia Epiphyseal stippling Generalized neonatal hypotonia Delayed skeletal maturation Abnormality of the pinna Short philtrum Progressive flexion contractures



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