Congestive heart failure, and Facial asymmetry

Diseases related with Congestive heart failure and Facial asymmetry

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Facial asymmetry that can help you solving undiagnosed cases.


Top matches:

Medium match MCCUNE-ALBRIGHT SYNDROME; MAS


Activating or gain-of-function GNAS1 mutations in patients with the McCune-Albright syndrome are present in the mosaic state, resulting from a postzygotic somatic mutation appearing early in the course of development which yields a monoclonal population of mutated cells within variously affected tissues. The nonmosaic state for most activating mutations is presumably lethal to the embryo. The disorder is characterized clinically by the classic triad of polyostotic fibrous dysplasia (POFD), cafe-au-lait skin pigmentation, and peripheral precocious puberty. However, the disorder is clinically heterogeneous and can include various other endocrinologic anomalies such as thyrotoxicosis, pituitary gigantism, and Cushing syndrome (OMIM ) (Lumbroso et al., 2004).

MCCUNE-ALBRIGHT SYNDROME; MAS Is also known as albright syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Abnormal facial shape
  • Depressed nasal bridge
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCCUNE-ALBRIGHT SYNDROME; MAS

Medium match FRIEDREICH ATAXIA


Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Medium match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

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Other less relevant matches:

Medium match ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS


Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Medium match VACTERL/VATER ASSOCIATION


VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

Medium match NAGER SYNDROME


Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.

NAGER SYNDROME Is also known as afd, nager type|mandibulofacial dysostosis, treacher collins type, with limb anomalies|preaxial acrodysostosis|nager acrofacial dysostosis|nager syndrome|mandibulofacial dysostosis with preaxial limb anomalies|nafd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NAGER SYNDROME

Low match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Facial asymmetry

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Facial asymmetry. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Patent ductus arteriosus

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Global developmental delay Abnormality of cardiovascular system morphology Brachydactyly Ventricular septal defect Atrial septal defect Hypertelorism Abnormal heart morphology Cryptorchidism Talipes equinovarus Microcephaly Low-set, posteriorly rotated ears Cataract Postnatal growth retardation Respiratory distress Pain Nystagmus Hydrocephalus Tachycardia Pes planus Hypertrophic cardiomyopathy Growth delay Toe syndactyly Clinodactyly Syndactyly High palate Short thumb Hip dislocation Clinodactyly of the 5th finger Abnormality of the skeletal system Downslanted palpebral fissures Cleft palate Abnormal cardiac septum morphology Seizures Depressed nasal bridge Hypogonadism Strabismus Aplasia/Hypoplasia of the radius Ventricular hypertrophy Unilateral renal agenesis Fever Thrombocytopenia Failure to thrive Epicanthus Short toe Gait ataxia Intrauterine growth retardation Hypospadias Arrhythmia Abnormal palate morphology Left ventricular hypertrophy Renal agenesis Cardiomyopathy Dolichocephaly Leukemia Hydronephrosis Agenesis of corpus callosum Bruising susceptibility Ventricular arrhythmia Microphthalmia Intellectual disability, mild Azoospermia Ventriculomegaly Frontal bossing Hypothyroidism Sensorineural hearing impairment Depressivity Coarctation of aorta Ataxia Optic atrophy Spasticity Feeding difficulties Hernia Visual impairment Neoplasm Spina bifida Premature birth Tetralogy of Fallot Triphalangeal thumb Choanal atresia Finger syndactyly Anal atresia Absent radius

Rare Symptoms - Less than 30% cases


Dilatation Amblyopia Webbed neck Hypoplasia of the radius Coloboma Intellectual disability, moderate Iris coloboma Multicystic kidney dysplasia Abnormal vertebral morphology Radioulnar synostosis Preauricular skin tag Telecanthus Tachypnea Pterygium Long philtrum Non-midline cleft lip Horseshoe kidney Generalized hypotonia Bone marrow hypocellularity Wheezing Transposition of the great arteries Pancytopenia Small for gestational age Tracheoesophageal fistula Myopia Macrocephaly Abnormality of blood and blood-forming tissues Hypoplastic left heart Myelodysplasia Microcornea Ectopic kidney Duodenal atresia Posteriorly rotated ears Recurrent urinary tract infections Anemia Cardiac arrest Bicuspid aortic valve Toe clinodactyly Bicornuate uterus Absent thumb Aplasia/Hypoplasia of the eyebrow Radial deviation of finger Triangular face Aortic valve stenosis Polyhydramnios Intestinal malrotation Aganglionic megacolon Abnormality of the kidney Dental malocclusion Camptodactyly Short palpebral fissure Hypoplasia of the maxilla Abnormality of the genital system Pectus excavatum Short chin Hemifacial hypoplasia Chorioretinal coloboma Retrognathia Proptosis Constipation Wide nasal bridge Pulmonic stenosis Abnormality of the dentition Malar flattening Headache Edema Thin upper lip vermilion Broad forehead Short neck Missing ribs Congenital diaphragmatic hernia Clumsiness Hyperthyroidism Cafe-au-lait spot Dysphagia Glucose intolerance Fatigue Diabetes mellitus Primary amenorrhea Inability to walk Kyphoscoliosis Hammertoe Amenorrhea Vertigo Muscle weakness Abdominal distention Hyperactivity Neurofibromas Palpitations Elevated alkaline phosphatase Vomiting Insulin resistance Abnormality of the foot Dilated cardiomyopathy Malignant hyperthermia Arnold-Chiari type I malformation Juvenile myelomonocytic leukemia Drusen Panuveitis Nonimmune hydrops fetalis Loose anagen hair Atrial flutter Restrictive cardiomyopathy Reduced factor XII activity Neurofibrosarcoma Shield chest Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Pectus excavatum of inferior sternum Impaired proprioception Gonadal neoplasm Astigmatism Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Leukopenia Type I diabetes mellitus Blindness Hypergonadotropic hypogonadism Telangiectasia Oligohydramnios Sloping forehead Lymphoma Hypopigmentation of the skin Neutropenia Abnormality of skin pigmentation Autoimmunity Reduced factor XIII activity Abnormality of the liver Irritability Abnormality of the eye Carcinoma Umbilical hernia Weight loss Upslanted palpebral fissure Severe short stature Renal insufficiency Hyperreflexia Hepatomegaly Gonadal dysgenesis Preductal coarctation of the aorta Nasogastric tube feeding Postductal coarctation of the aorta Abnormality of color vision Synophrys Aqueductal stenosis Hypoplasia of first ribs Sparse lower eyelashes Lower eyelid coloboma Absent toe Short distal phalanx of the thumb Laryngeal hypoplasia Hypoplasia of the epiglottis Velopharyngeal insufficiency Foot oligodactyly Mandibulofacial dysostosis Abnormality of the cervical spine Abnormal nasal morphology Gastroschisis Phocomelia Hypercalciuria Goiter Hallux valgus Atrioventricular block Atresia of the external auditory canal Urticaria Hypercalcemia Overlapping toe Spastic diplegia Broad hallux Abnormality of the lower limb Precocious puberty Limited elbow extension Aplasia/Hypoplasia of the thumb Facial cleft Hypoplasia of the zygomatic bone Trismus Cognitive impairment Neoplasm of the skin Neuroblastoma Lymphedema Abnormality of the vertebral column Male infertility Cystic hygroma Abnormality of vision Leukocytosis Abnormality of the coagulation cascade Cubitus valgus Infertility Patent foramen ovale Failure to thrive in infancy Hirsutism Poor suck Arnold-Chiari malformation Plagiocephaly Nevus Nephrocalcinosis Tall stature Splenomegaly Aspiration Gynecomastia Decreased liver function Rod-cone dystrophy Abdominal pain Gastroesophageal reflux Low posterior hairline Sparse hair Nephrolithiasis Hypotrichosis High, narrow palate Abnormal bleeding Wide intermamillary distance Reduced bone mineral density Hydroureter Abnormality of the urinary system Leukodystrophy Bipolar affective disorder Natal tooth Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Flat occiput Heart murmur Ectropion Trigonocephaly Hand polydactyly Pyloric stenosis Schizophrenia Infantile muscular hypotonia Holoprosencephaly Sinusitis Double outlet right ventricle Postural instability Skin rash Neurological speech impairment Narrow chest Talipes Smooth philtrum Single transverse palmar crease Decreased antibody level in blood Pachygyria Growth hormone deficiency Otitis media Microdontia Dehydration Eczema Abnormal form of the vertebral bodies Abnormal eyelash morphology Diastasis recti Craniosynostosis Congenital thrombocytopenia Giant platelets Abnormality of the anus Annular pancreas Internal hemorrhage Arteria lusoria Bilateral camptodactyly Megakaryocyte dysplasia Clitoral hypoplasia Abnormality of the curvature of the vertebral column Cardiomegaly Hydrops fetalis Tricuspid regurgitation Right ventricular hypertrophy Left ventricular noncompaction Macular hypoplasia Central hypothyroidism Retinal dysplasia Aplasia/Hypoplasia of the earlobes Chronic constipation Eyelid coloboma Ectopic anus Mitral stenosis Broad hallux phalanx Nuclear cataract Labial hypoplasia U-Shaped upper lip vermilion Abnormal thrombocyte morphology Broad columella Nasolacrimal duct obstruction Abnormality of the head Long hallux Urethral stenosis Attention deficit hyperactivity disorder Feeding difficulties in infancy Hyperinsulinemia Abnormality of the uterus Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Abnormality of the thumb Abnormality of the testis Aplastic anemia Meckel diverticulum Irregular hyperpigmentation Hypoplasia of the ulna Squamous cell carcinoma Acne Myeloid leukemia Multiple cafe-au-lait spots Acute myeloid leukemia External ear malformation Abnormality of the upper limb Hearing abnormality Chromosome breakage Abnormal eyelid morphology Abnormality of the ulna Arteriovenous malformation B-cell lymphoma Duplicated collecting system Low-grade fever Hypoglycemia Cerebral atrophy Muscular hypotonia Flexion contracture Anteverted nares Behavioral abnormality Short nose Immunodeficiency Recurrent infections Pyridoxine-responsive sideroblastic anemia Inguinal hernia Recurrent respiratory infections Prominent forehead Osteoporosis High forehead Osteopenia Abnormality of the preputium Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the iris Absent testis Complete duplication of thumb phalanx Partial duplication of thumb phalanx Clubbing of toes Decreased fertility in males Chromosomal breakage induced by crosslinking agents Hypoplastic anemia Compensated hypothyroidism Aplasia/Hypoplasia of the uvula Almond-shaped palpebral fissure Abnormal carotid artery morphology Prolonged G2 phase of cell cycle Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA Neoplasm of head and neck Rickets Joint stiffness Split hand Intention tremor Lens luxation Short upper lip Colpocephaly Profound global developmental delay Hypoplasia of teeth Neurogenic bladder Congenital nystagmus Bowing of the legs Peripheral demyelination Optic disc pallor Aortic aneurysm Relative macrocephaly Genu varum Aplasia/Hypoplasia of the corpus callosum Aortic regurgitation Scleral staphyloma Atrial fibrillation Dental crowding Thick lower lip vermilion Intellectual disability, profound Bilateral sensorineural hearing impairment Progressive visual loss Convex nasal ridge Esotropia Prominent nose Involuntary movements Highly arched eyebrow Lower limb spasticity Long face Joint hyperflexibility Lop ear Short 2nd toe Spastic gait Short palm Short phalanx of finger Decreased body weight Hypoplasia of dental enamel Tetraparesis Renal hypoplasia Abnormality of eye movement Specific learning disability Short metacarpal Syncope Abnormality of movement Lower limb muscle weakness Delayed eruption of teeth Short foot Small hand Bulbous nose Posterior staphyloma Sensory neuropathy Sensory impairment Chorea Chest pain Progressive cerebellar ataxia Abnormal cerebellum morphology Neurodegeneration Falls Dysmetria Delayed skeletal maturation Peripheral axonal neuropathy Joint laxity Paralysis Blepharophimosis Unsteady gait Limb ataxia Corneal opacity Scapular winging Upper limb amyotrophy Structural foot deformity Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Incomprehensible speech Cerebellar cortical atrophy Atrophic superior cerebellar peduncle Concentric hypertrophic cardiomyopathy Diabetic ketoacidosis Decreased sensory nerve conduction velocity Reduced systolic function Hand muscle atrophy Sinus tachycardia Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Positive Romberg sign Lower limb amyotrophy Abnormal echocardiogram Poor fine motor coordination T-wave inversion Subvalvular aortic stenosis Impaired visually enhanced vestibulo-ocular reflex Gait imbalance Mental deterioration Sensory axonal neuropathy Truncal ataxia Muscle stiffness Paraparesis Coarse facial features Autism Spastic paraparesis Reduced tendon reflexes Slurred speech Incoordination Absent speech Cachexia Dysdiadochokinesis Impaired vibratory sensation Intellectual disability, severe Hypoplasia of the corpus callosum Spinocerebellar tract degeneration Ketosis Hyposmia Areflexia of lower limbs Myocardial fibrosis Increased reactive oxygen species production Ketoacidosis Urinary bladder sphincter dysfunction Heart block Decreased motor nerve conduction velocity Abnormality of visual evoked potentials Abnormal EKG Thoracic scoliosis Optic neuropathy Hyperactive deep tendon reflexes Visual field defect Limb muscle weakness Ventricular tachycardia Hemiparesis Syringomyelia Tethered cord Cavernous hemangioma Ureteropelvic junction obstruction Abnormality of female internal genitalia Abnormality of the pancreas Atelectasis Rectovaginal fistula Tracheal stenosis Single umbilical artery Osteomalacia Aplasia/Hypoplasia of the lungs Esophageal atresia Anencephaly Growth hormone excess Increased circulating cortisol level Abnormal sacrum morphology Occipital encephalocele Prolactin excess Abnormality of the sternum Pituitary adenoma Vertebral segmentation defect Osteosarcoma Right bundle branch block Bundle branch block Pituitary hypothyroidism Dextrocardia Preaxial hand polydactyly Intestinal polyposis Bifid scrotum Craniofacial hyperostosis Supernumerary ribs Abnormality of the nasopharynx Preaxial polydactyly Respiratory insufficiency Hyperostosis Polymicrogyria Cleft upper lip Prominent nasal bridge Microtia Wide mouth Asymmetric septal hypertrophy Adrenal insufficiency Cleft lip Conductive hearing impairment Skeletal dysplasia Hypophosphatemia Pathologic fracture Midface retrusion Delayed speech and language development Laryngeal stenosis Hyperparathyroidism Vertebral clefting Lower limb undergrowth Abnormality of the intervertebral disk Abnormality of the urethra Anorectal anomaly Absence of the sacrum Abnormality of the gallbladder Abnormality of the thyroid gland Potter facies Perineal fistula Abnormal tracheobronchial morphology Asymmetric crying face Patent urachus Freckling Ovarian cyst Laryngomalacia Oligodontia Periodic paralysis Reduced visual acuity Difficulty walking Pallor Prominent U wave Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Periodic hyperkalemic paralysis Short mandibular rami Periodic hypokalemic paresis Clinodactyly of the 5th toe Abnormal pyramidal sign Delayed eruption of permanent teeth Persistence of primary teeth Scaphocephaly Pes cavus Abnormal heart valve morphology Slender long bone Long nose Agenesis of permanent teeth Prolonged QT interval Hyperkalemia High pitched voice Loss of consciousness 2-3 toe syndactyly Preauricular pit Myotonia Hypokalemia Short metatarsal Growth abnormality Cerebral cortical atrophy Babinski sign Pseudohypoparathyroidism Monostotic fibrous dysplasia Hamartomatous polyposis Abnormality of the outer ear Multinodular goiter Hemivertebrae Myelofibrosis Situs inversus totalis Axillary freckling Thyroid nodule Polyostotic fibrous dysplasia Large fontanelles Renal dysplasia Precocious puberty in females Large cafe-au-lait macules with irregular margins Omphalocele Small nail Pneumonia Cerebellar atrophy Polydactyly Areflexia Visual loss Kyphosis Dystonia Respiratory tract infection Pulmonary hypoplasia Abnormality of the ribs Vesicoureteral reflux Gait disturbance Dysarthria Peripheral neuropathy Hypoplasia of penis Ambiguous genitalia Multiple pterygia



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