Hypertelorism, and Atrial fibrillation

Diseases related with Hypertelorism and Atrial fibrillation

In the following list you will find some of the most common rare diseases related to Hypertelorism and Atrial fibrillation that can help you solving undiagnosed cases.

Top matches:

ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

High match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

High match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Other less relevant matches:

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

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

Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes (OMIM ). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes appears later in life (Arthur et al., 1997).The major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene ({603044}; Mackay et al., 2005). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features. Genetic Heterogeneity of Transient Neonatal DiabetesTNDM2 (OMIM ) is caused by mutation in the ABCC8 gene (OMIM ) on chromosome 11p15.1. TNDM3 (OMIM ) is caused by mutation in the KCNJ11 gene (OMIM ), also located on 11p15.1.

DIABETES MELLITUS, TRANSIENT NEONATAL, 1 Is also known as tndm1|dmtn|tndm

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Intrauterine growth retardation
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about DIABETES MELLITUS, TRANSIENT NEONATAL, 1

Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.

LAURIN-SANDROW SYNDROME Is also known as mirror hands and feets-nasal defects syndrome|tmip|mirror-image polydactyly|fibula and ulna, duplication of, with absence of tibia and radius|mip|mirror hands and feet with nasal defects|sandrow syndrome|tetramelic mirror-image polydactyly

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Cryptorchidism
  • Talipes equinovarus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LAURIN-SANDROW SYNDROME

Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.

ULNAR-MAMMARY SYNDROME Is also known as schinzel syndrome|ums|pallister ulnar-mammary syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR-MAMMARY SYNDROME

Medium match OGDEN SYNDROME

Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.

OGDEN SYNDROME Is also known as n-terminal acetyltransferase deficiency|premature aging appearance-developmental delay-cardiac arrhythmia syndrome|natd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OGDEN SYNDROME

SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Top 5 symptoms//phenotypes associated to Hypertelorism and Atrial fibrillation

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertelorism and Atrial fibrillation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive

Common Symptoms - More than 50% cases

Hernia

Uncommon Symptoms - Between 30% and 50% cases

Ventricular septal defect Epicanthus Low-set ears Seizures Scoliosis Inguinal hernia Arrhythmia Abnormality of the dentition Abnormality of cardiovascular system morphology Microcephaly Gastroesophageal reflux Generalized hypotonia Micrognathia Muscular hypotonia Ptosis Depressed nasal bridge Cognitive impairment Downslanted palpebral fissures Feeding difficulties Edema Frontal bossing Abnormal heart morphology Pain High palate Postnatal growth retardation Atrial septal defect Constipation Capillary malformation Wide nasal bridge Cerebral cortical atrophy Intrauterine growth retardation Hypogonadism Polydactyly Postaxial polydactyly Deeply set eye Delayed skeletal maturation Arnold-Chiari type I malformation Cerebral atrophy Premature atrial contractions Prominent forehead Cardiomyopathy Thick upper lip vermilion Redundant skin Hypothyroidism Macroglossia Proptosis Hydrocephalus Talipes equinovarus Polyhydramnios Pectus carinatum Myopia Tachycardia High, narrow palate Overgrowth Posteriorly rotated ears Abnormal facial shape Strabismus Cutis laxa Neoplasm Arnold-Chiari malformation Delayed puberty Lethargy Hypertrophic cardiomyopathy Short neck Poor suck Nystagmus Motor delay Ventricular hypertrophy Cataract Joint laxity Pulmonic stenosis Aortic aneurysm Sensorineural hearing impairment Headache Left ventricular hypertrophy Dilatation Patent ductus arteriosus Osteoporosis

Rare Symptoms - Less than 30% cases

Intellectual disability, moderate Aortic dissection Wide nose Soft skin Macrocephaly Anteverted nares Intellectual disability, mild Joint hypermobility Short nose Abnormality of the nervous system Pectus excavatum Pes cavus Bicuspid aortic valve Hyperhidrosis Sparse hair Kyphoscoliosis Low-set, posteriorly rotated ears Coarse facial features Peripheral neuropathy Heterotopia Delayed speech and language development Drowsiness Purpura Stereotypy Ischemic stroke Small hand Midface retrusion Behavioral abnormality Bifid scrotum Hyperthyroidism Rhabdomyolysis Broad face Supraventricular tachycardia Abnormality of the skeletal system Neonatal hypoglycemia Wolff-Parkinson-White syndrome Mandibular prognathia Obesity Abnormality of the wrist Short columella Absent radius Hand polydactyly Abnormality of the metacarpal bones Underdeveloped nasal alae Cleft palate Thick vermilion border Webbed neck Sleep disturbance Postaxial hand polydactyly Severe postnatal growth retardation Megalencephaly Large earlobe Hepatomegaly Cavum septum pellucidum Atrial flutter Deep palmar crease Severe failure to thrive Schwannoma Shock Pes planus Syringomyelia Retinal detachment Oral cleft Body odor Toe syndactyly Finger syndactyly Leukemia Broad forehead High forehead Syndactyly Loose anagen hair Camptodactyly Neuroblastoma Ascites Hoarse voice Mitral valve prolapse Full cheeks Nevus Everted upper lip vermilion Growth hormone deficiency Abnormality of the skin Dental malocclusion Hypoplasia of dental enamel Long eyelashes Lymphedema Abnormality of the fingernails Brachydactyly Migraine Hemangioma Bruising susceptibility Laryngomalacia Pyloric stenosis Failure to thrive in infancy Hyperglycemia Hypoplastic toenails Clinodactyly Large for gestational age Decreased body weight Upslanted palpebral fissure Type II diabetes mellitus EEG abnormality Vomiting Amenorrhea Congestive heart failure Feeding difficulties in infancy Hearing impairment Hip dysplasia Polymicrogyria Hypertonia Anxiety Renal insufficiency Abnormality of the cardiovascular system Nephropathy Encephalopathy Areflexia Hyporeflexia Postural instability Rod-cone dystrophy Ataxia Diabetes mellitus Abdominal pain Myopathy Apnea Stroke Anal atresia Fever Dysphagia Paresthesia Hypertension Respiratory insufficiency Arthrogryposis multiplex congenita Dysarthria Abnormality of the thyroid gland Myelodysplasia Patent foramen ovale Asymmetry of the thorax Elevated alkaline phosphatase Pterygium Open bite Cubitus valgus Azoospermia Abnormality of the immune system Progressive spastic paraplegia Optic disc hypoplasia Plagiocephaly Lymphangioma Amblyopia Clumsiness Primary amenorrhea Broad palm Otitis media Low posterior hairline Impaired pain sensation Coarctation of aorta Wide intermamillary distance Protruding tongue Hypoplastic aortic arch Esotropia Overweight Radial deviation of finger Decreased fetal movement Abnormality of the coagulation cascade Lissencephaly Pachygyria Restrictive cardiomyopathy Nonimmune hydrops fetalis Drusen Shield chest Sinusitis Malignant hyperthermia Gonadal dysgenesis Abnormality of blood and blood-forming tissues Abnormality of the vertebral column Abnormal vertebral morphology Synovitis Increased body weight Hypercholesterolemia Leukocytosis Male infertility Abnormality of the outer ear Drooling Cystic hygroma Neurofibromas Sacral dimple Broad-based gait Abnormality of the urinary system Multiple lentigines Abnormality of color vision Self-injurious behavior Hypertriglyceridemia Impulsivity Omphalocele Abnormal bleeding Chronic constipation Abdominal distention Cortical dysplasia Telangiectasia Multicystic kidney dysplasia Cutaneous syndactyly Reduced bone mineral density Nephroblastoma Cutis marmorata Abnormality of digit Vesicoureteral reflux Recurrent aspiration pneumonia Aplasia/Hypoplasia of the skin Multiple cafe-au-lait spots Telangiectasia of the skin Nevus flammeus Capillary hemangioma Mood changes Hyperacusis Varicose veins Umbilical hernia Lymphangiectasis Frequent temper tantrums Congenital neuroblastoma Thickened Achilles tendon Systolic heart murmur Increased corneal curvature Microphthalmia Pelvic kidney Head-banging Abnormality of the forearm Midline brain calcifications Abnormal tracheobronchial morphology Morphological abnormality of the middle ear Smooth philtrum Abnormality of upper lip Meningioma Abnormality of the lower limb Triangular face Splenomegaly Progressive macrocephaly Displacement of the external urethral meatus Vascular ring Cutis marmorata telangiectatica congenita Blue nevus Bruxism Short attention span Duodenal atresia Thrombocytopenia Microcornea Abnormal cardiac septum morphology Self-mutilation Hypotrichosis Facial asymmetry Leukocoria Hemimegalencephaly Arteriovenous malformation Arterial stenosis Excessive daytime sleepiness Hemihypertrophy Abnormality of the upper limb Dilation of lateral ventricles Velopharyngeal insufficiency Recurrent ear infections Skin erosion Abnormality of the larynx Abnormal renal morphology Right aortic arch Asymmetric growth Perisylvian polymicrogyria Subcutaneous hemorrhage Short lower limbs Facial hemangioma Amegakaryocytic thrombocytopenia Short palm Superior pectus carinatum Ectopic posterior pituitary Subglottic stenosis Broad eyebrow Aplasia/Hypoplasia of the ulna Laryngeal stenosis Abnormality of temperature regulation Abnormality of the radius Absent hand Aplasia of the ulna Breast aplasia Abnormal external genitalia Absent axillary hair Hernia of the abdominal wall Laryngeal web Aplasia of the pectoralis major muscle Imperforate hymen Short 4th toe Gastroschisis Anterior pituitary hypoplasia Long uvula Malar flattening Abnormality of finger Hypoplastic scapulae Ectopic anus Clinodactyly of the 5th finger Abnormality of metabolism/homeostasis Sparse axillary hair Sparse lateral eyebrow Abnormality of the uterus Abnormality of the humerus Hypoplasia of the corpus callosum Gonadotropin deficiency Perimembranous ventricular septal defect Breast hypoplasia Facial wrinkling Enlarged naris Wide nasal base Short 5th toe Deformed radius Sprengel anomaly Poor eye contact Scrotal hypoplasia Delayed gross motor development Coarse hair Deep philtrum Broad hallux Delayed cranial suture closure Aplasia/Hypoplasia of the eyebrow Pulmonary artery stenosis Torticollis Ventricular extrasystoles Abnormality of the nares Excessive daytime somnolence Shuffling gait Torsade de pointes Unilateral cryptorchidism Acetabular dysplasia Ventricular tachycardia Microretrognathia Axillary apocrine gland hypoplasia Autistic behavior Unilateral oligodactyly Minimal subcutaneous fat Recurrent infections Macrotia Thin upper lip vermilion Neonatal hypotonia Muscular hypotonia of the trunk Abnormality of the foot Cardiogenic shock Abnormality of the forehead Highly arched eyebrow Waddling gait Abnormal head movements Narrow forehead Fine hair Sparse and thin eyebrow Low anterior hairline Abnormality of the clavicle Short clavicles Delayed eruption of teeth Gliosis Transient neonatal diabetes mellitus Hypoinsulinemia Paralysis Talipes Thin vermilion border Downturned corners of mouth Short foot Limitation of joint mobility Severe intrauterine growth retardation Prominent nose Hyperlordosis Depressed nasal ridge Abnormality of the kidney Abnormality of the face Aplasia/Hypoplasia of the corpus callosum Cleft lip Microtia Glucose intolerance Triphalangeal thumb Pectus excavatum of inferior sternum Reduced factor XII activity Single transverse palmar crease Premature coronary artery atherosclerosis Neurofibrosarcoma Panuveitis Falls Juvenile myelomonocytic leukemia Gonadal neoplasm Dehydration Reduced factor XIII activity Nasogastric tube feeding Dry skin Synophrys Preductal coarctation of the aorta Postductal coarctation of the aorta Small for gestational age Preaxial polydactyly Preaxial hand polydactyly Inverted nipples Brachycephaly Convex nasal ridge Hypoplasia of penis Interphalangeal joint contracture of finger Renal hypoplasia Split hand Abnormality of the genital system Hypoplasia of the radius Hypoplasia of the ulna Hypodontia External genital hypoplasia Decreased fertility Short humerus Hypoplastic nipples Oligodactyly Anal stenosis Shawl scrotum Round face Short distal phalanx of finger Short middle phalanx of finger Abnormality of the nose Hallux valgus Tarsal synostosis Aplasia/Hypoplasia of the thumb Aggressive behavior Broad foot Conductive hearing impairment Preaxial foot polydactyly Patellar aplasia Camptodactyly of finger Absent tibia Rudimentary to absent tibiae Limb duplication Fibular duplication Mirror image polydactyly Hyperactivity Tendon rupture Micropenis Alveolar rhabdomyosarcoma Verrucae Vitreomacular adhesion Abnormality of mitochondrial metabolism Chronic kidney disease Atrioventricular block Cachexia Decreased nerve conduction velocity Hypercalciuria Bilateral ptosis Hemiplegia Hyponatremia Easy fatigability Ophthalmoparesis Personality changes Intestinal obstruction Aplasia/Hypoplasia of the cerebellum Mask-like facies Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Abnormality of neuronal migration Growth abnormality Hyperkinesis Adrenal insufficiency Type I diabetes mellitus Cerebral visual impairment Clonus Cardiac arrest Truncal ataxia EMG abnormality Generalized hirsutism Hypogonadotrophic hypogonadism Exercise intolerance Goiter Macular degeneration Pancreatitis External ophthalmoplegia Reduced tendon reflexes Ragged-red muscle fibers Hypopigmented skin patches Mutism Schizophrenia Overlapping toe Bundle branch block Abnormality of retinal pigmentation Facial diplegia Hypoparathyroidism Mitochondrial myopathy Progressive external ophthalmoplegia Posterior subcapsular cataract Transient ischemic attack Delusions Cardiorespiratory arrest Renal tubular dysfunction Xerostomia Tubulointerstitial nephritis Visual hallucinations Increased CSF lactate Cerebral ischemia Reduced consciousness/confusion Gait imbalance Anterior hypopituitarism Stroke-like episode Heart block Vitiligo Aphasia Progressive sensorineural hearing impairment Vestibular dysfunction Dysphasia Hyperkalemia Visual field defect Prolonged QT interval Multiple lipomas Vertebral fusion Glomerulopathy Abnormality of visual evoked potentials Basal ganglia calcification Thyroiditis Abnormality of immune system physiology Primary adrenal insufficiency Pulmonary embolism Distal arthrogryposis Atopic dermatitis Hashimoto thyroiditis Hallucinations Gingival overgrowth Left ventricular failure Jaundice Gait ataxia Weight loss Autism Knee osteoarthritis Dyspnea Acidosis Uterine prolapse Photophobia Dementia Myalgia Proteinuria Intervertebral disc degeneration Mental deterioration Developmental regression Abnormality of the pinna Protruding ear Erythema Myoclonus Cerebellar hypoplasia Nyctalopia Visual impairment Hyperreflexia Skeletal muscle atrophy Optic atrophy Tremor Gait disturbance Fatigue Respiratory distress Blindness Elevated serum creatine phosphokinase Cerebellar atrophy Diarrhea Anemia Dystonia Kyphosis Depressivity Visual loss Muscle weakness Abnormality of the liver Attention deficit hyperactivity disorder Anorexia Pigmentary retinopathy Generalized myoclonic seizures Sudden cardiac death Sensory impairment Increased serum lactate Memory impairment Specific learning disability Cerebral calcification Generalized-onset seizure Muscle cramps Bilateral sensorineural hearing impairment Nephrotic syndrome Pulmonary arterial hypertension Status epilepticus Psychosis Hemiparesis Hypertrichosis Involuntary movements Abnormal cerebellum morphology Coma Neurological speech impairment Malabsorption Dilated cardiomyopathy Pruritus Generalized tonic-clonic seizures Protrusio acetabuli Ophthalmoplegia Congenital cataract Carious teeth Nausea and vomiting Abdominal aortic aneurysm Polyneuropathy Dysmetria Confusion Ichthyosis Vertigo Peripheral axonal neuropathy Lactic acidosis Nausea Hirsutism Seborrheic dermatitis Speech apraxia Myofiber disarray Barrel-shaped chest Generalized hyperpigmentation Tracheomalacia Central hypotonia Obstructive sleep apnea Microscopic hematuria Thickened nuchal skin fold Fragile nails Progeroid facial appearance Curly hair Woolly hair Achilles tendon contracture Large forehead Central apnea Lack of skin elasticity Abnormality of the testis Redundant neck skin Labial hypoplasia Ulnar deviation of finger Keratoconus Abnormal mitral valve morphology Infantile muscular hypotonia Abnormality of the hair Pointed chin Narrow palate Abnormality of dental enamel Short chin Acanthosis nigricans Abnormal dermatoglyphics Relative macrocephaly Reduced subcutaneous adipose tissue Arachnodactyly Hyperextensible skin Pleural effusion Heart murmur Bilateral cryptorchidism Tricuspid regurgitation Rocker bottom foot Neurodevelopmental delay Asymmetric septal hypertrophy Broad philtrum Hydrops fetalis Vestibular Schwannoma Postprandial hyperglycemia Shyness Hypopnea Concentric hypertrophic cardiomyopathy Transitional cell carcinoma of the bladder Ganglioneuroblastoma Frontal hirsutism Deep-set nails Duodenal ulcer Embryonal rhabdomyosarcoma Multifocal atrial tachycardia Neonatal sepsis Choroid plexus papilloma Bladder carcinoma Cardiomyocyte hypertrophy Macrocephaly at birth Enlarged cerebellum Ulnar deviation of the wrist Abnormal pulmonary valve morphology Fasting hypoglycemia Limited elbow movement Hypoplasia of teeth Concave nail Pneumothorax Hyperextensibility of the finger joints Rhabdomyosarcoma Broad femoral neck Abnormality of earlobe Fetal distress Bladder neoplasm Bronchomalacia Papilloma Large face Thin nail Deep plantar creases Hematemesis Melena Triangular mouth Cafe-au-lait spot Wide anterior fontanel Retinal pigment epithelial atrophy Edema of the dorsum of hands Abnormality of the cerebellar vermis Crohn's disease Hemeralopia Abnormal macular morphology Spotty hypopigmentation Paronychia Abnormal mitochondrial morphology Cochlear malformation Tubulointerstitial abnormality Progressive night blindness Cochlear degeneration Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Psychotic episodes Renal Fanconi syndrome Morphological abnormality of the vestibule of the inner ear Dysesthesia Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Hemianopia Abnormality of the renal tubule Episodic vomiting Motor polyneuropathy Psychomotor deterioration Abnormal nerve conduction velocity Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Gastroparesis Amaurosis fugax Auditory hallucinations Bilateral intracranial calcifications Morphological abnormality of the inner ear Hyperpigmentation of the skin Joint hyperflexibility Hypoglycemia Carcinoma Irritability Mitral regurgitation Wide mouth Osteoarthritis Hypermetropia Astigmatism Aortic regurgitation Hematuria Tetraplegia Sepsis Premature birth Eczema Apraxia Epidermal acanthosis Thick lower lip vermilion Osteopenia Hyperkeratosis Prominent ear helix Subarachnoid hemorrhage Dural ectasia Arterial tortuosity Hip osteoarthritis Thoracic aortic aneurysm Osteochondritis Dissecans Low back pain Spondylolisthesis Dilatation of the cerebral artery Striae distensae Respiratory failure Abnormal joint morphology Slender finger Abnormality of the sternum Disproportionate tall stature Long philtrum Absent speech Back pain Severe short stature Sleep-wake inversion


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