Abnormal facial shape, and Dilated cardiomyopathy

Diseases related with Abnormal facial shape and Dilated cardiomyopathy

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


Top matches:

Medium 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

Medium match MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB


MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB Is also known as myopathy, hyaline body, autosomal recessive

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • High palate
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB

Medium match MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2; MGRISCE2


MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM ), but patients with mutations in the TOP3A gene do not have a malar rash (summary by Martin et al., 2018).For a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; {210900})

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2; MGRISCE2

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Other less relevant matches:

Medium match LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME


Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

Medium match PGM1-CDG


Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

Medium match MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Medium match CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY


Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Is also known as cftdm

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

Medium match CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS


Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Medium match AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY


Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as edmd3

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY

Medium match MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD


Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Dilated cardiomyopathy

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Micrognathia Failure to thrive Waddling gait Global developmental delay EMG: myopathic abnormalities Proximal muscle weakness Scoliosis Ptosis Hypertrophic cardiomyopathy Congestive heart failure Limb muscle weakness Long face Intellectual disability Pectus excavatum Generalized hypotonia Hyperlordosis Generalized muscle weakness Decreased fetal movement Growth delay Respiratory insufficiency due to muscle weakness Mildly elevated creatine phosphokinase Flexion contracture Scapular winging Lower limb muscle weakness Respiratory failure Skeletal muscle atrophy Respiratory insufficiency Elevated serum creatine phosphokinase

Rare Symptoms - Less than 30% cases


Neonatal hypotonia Muscular hypotonia Cryptorchidism Low-set ears Joint laxity Atrial fibrillation Areflexia Dysphagia Lumbar hyperlordosis Retrognathia Hypertension Narrow face Recurrent respiratory infections Polyhydramnios Pulmonary hypoplasia Infantile muscular hypotonia Ophthalmoplegia Spinal rigidity Myotonia Muscular dystrophy Elbow flexion contracture Bulbar palsy Congenital hip dislocation Facial palsy Reduced tendon reflexes Weak cry Ankle contracture Type 1 muscle fiber atrophy Nemaline bodies Hypogonadism Knee flexion contracture Motor delay Microcephaly Cataract Hypertonia Centrally nucleated skeletal muscle fibers Myopathic facies Cardiac arrest Progressive muscle weakness Reduced vital capacity Deeply set eye Arrhythmia Left ventricular noncompaction Seizures Edema Type 1 muscle fiber predominance Late-onset distal muscle weakness Fetal distress Percussion myotonia Diaphragmatic paralysis Neck flexor weakness Kyphosis Gait disturbance Breech presentation Obesity Joint stiffness Paresthesia Ichthyosis Vertigo Sudden cardiac death Depressivity Slender build Lactic acidosis Cardiomegaly Foot dorsiflexor weakness Cough Arthrogryposis multiplex congenita Pterygium Genu valgum Falls Frequent falls Joint contracture of the hand Ventricular arrhythmia Congenital contracture Fetal akinesia sequence Akinesia Hydrops fetalis Mask-like facies Left ventricular hypertrophy Ventricular hypertrophy Thin ribs Hypoventilation EMG: neuropathic changes Facial diplegia Hypertriglyceridemia Abnormal lung morphology Palpitations Clumsiness Ventricular escape rhythm Proximal upper limb amyotrophy Pelvic girdle muscle atrophy Absent muscle fiber emerin Decreased cervical spine flexion due to contractures of posterior cervical muscles Restricted neck movement due to contractures Diabetes mellitus Osteopenia Muscular hypotonia of the trunk Hirsutism Insulin resistance Limb-girdle muscle atrophy Hyperinsulinemia Hyperglycemia Glucose intolerance Multiple joint contractures Glycosuria Difficulty running Insulin-resistant diabetes mellitus Limb joint contracture Abnormal glucose tolerance Spinal deformities Postprandial hyperglycemia Permanent atrial fibrillation Proximal muscle weakness in upper limbs Respiratory tract infection Sprengel anomaly Diplopia Atrioventricular block Back pain Lipodystrophy Limb-girdle muscular dystrophy Congenital muscular dystrophy Toe walking Generalized amyotrophy Restrictive ventilatory defect Rimmed vacuoles Progeroid facial appearance Proximal lower limb amyotrophy Shoulder girdle muscle weakness Limb-girdle muscle weakness Achilles tendon contracture Decreased HDL cholesterol concentration Increased connective tissue Hyporeflexia of lower limbs Proximal muscle weakness in lower limbs Pelvic girdle muscle weakness Supraventricular arrhythmia Increased LDL cholesterol concentration Shoulder girdle muscle atrophy Paralysis Pes cavus Feeding difficulties in infancy Decreased serum insulin-like growth factor 1 Exercise intolerance Abnormality of the coagulation cascade Rhabdomyolysis Malignant hyperthermia Pierre-Robin sequence Hyperinsulinemic hypoglycemia Small face Type I transferrin isoform profile Chronic hepatitis Reduced antithrombin III activity Hepatitis Increased intramyocellular lipid droplets Exercise-induced muscle fatigue Increased muscle glycogen content Cerebral venous thrombosis Type II transferrin isoform profile Abnormal protein glycosylation Hypertelorism Wide mouth Long philtrum Hypogonadotrophic hypogonadism Chest pain Stroke Facial asymmetry Gliosis Increased serum lactate Neuronal loss in central nervous system Hyperalaninemia Cleft palate Fever Fatigue Intellectual disability, mild Prominent forehead Hypothyroidism Bifid uvula Dyspnea Hypoglycemia Elevated hepatic transaminase Cleft lip Abnormality of the liver Delayed puberty Tachycardia Hepatic steatosis Muscle cramps Acidosis Wide nose Apnea Flexion contracture of finger Frontal bossing Intrauterine growth retardation Scapuloperoneal weakness Civatte bodies Scapuloperoneal amyotrophy Tented upper lip vermilion Poor suck Calf muscle hypertrophy Hip contracture Fatigable weakness of bulbar muscles Gastroesophageal reflux Hyperreflexia Multiple pterygia Abnormality of the skeletal system Respiratory distress Hyporeflexia Bulbous nose Rigidity Right ventricular hypertrophy Tricuspid regurgitation Recurrent infections Skin rash Small hand Congenital ptosis Growth hormone deficiency Decreased testicular size Short phalanx of finger Hypergonadotropic hypogonadism Azoospermia Cerebral hemorrhage Premature graying of hair Stroke-like episode Abnormal left ventricle morphology Broad finger Cafe-au-lait spot Abnormality of the nares Abnormal hand morphology Moyamoya phenomenon Midface retrusion Anteverted nares Depressed nasal bridge Talipes equinovarus Malar rash Kyphoscoliosis Reduced subcutaneous adipose tissue Type 1 fibers relatively smaller than type 2 fibers



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