Hypertelorism, and Left ventricular hypertrophy

Diseases related with Hypertelorism and Left ventricular hypertrophy

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

Top matches:

Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

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

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Other less relevant matches:

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

High match VICI SYNDROME

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

GORLIN-CHAUDHRY-MOSS SYNDROME Is also known as gcm syndrome|gorlin-chaudhry-moss syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about GORLIN-CHAUDHRY-MOSS SYNDROME

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

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

Top 5 symptoms//phenotypes associated to Hypertelorism and Left ventricular hypertrophy

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertelorism and Left ventricular hypertrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Patent ductus arteriosus

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Ventricular hypertrophy

Common Symptoms - More than 50% cases

Hypertrophic cardiomyopathy

Uncommon Symptoms - Between 30% and 50% cases

Low posterior hairline Micrognathia Scoliosis Pulmonic stenosis Generalized hypotonia Anteverted nares Abnormal heart morphology Hearing impairment Bicuspid aortic valve Delayed skeletal maturation Seizures Ptosis Hernia Epicanthus Cardiomyopathy Feeding difficulties Microcephaly Osteoporosis Dilatation Congestive heart failure Hypertension Wide nasal bridge Cleft palate Respiratory distress Rod-cone dystrophy Triangular face Muscular hypotonia Sensorineural hearing impairment High palate Nystagmus Intellectual disability, mild Cognitive impairment Atrial septal defect Downslanted palpebral fissures Cryptorchidism Failure to thrive Webbed neck Brachydactyly Abnormal cardiac septum morphology Cerebral cortical atrophy Abnormal facial shape Proptosis Polyhydramnios Abnormality of the dentition Pain Pectus excavatum Fever Gastroesophageal reflux Motor delay Sparse hair Acidosis Abnormality of the pinna Muscle weakness Narrow chest Ventricular septal defect Microdontia Brachycephaly Posteriorly rotated ears Generalized hirsutism Patent foramen ovale Lymphedema Hypertrichosis Thick vermilion border Long philtrum Hyperextensible skin Midface retrusion Cataract Umbilical hernia High, narrow palate Postnatal growth retardation Inguinal hernia Cerebellar hypoplasia Joint laxity Headache Mitral valve prolapse Abnormality of the skeletal system Aortic aneurysm

Rare Symptoms - Less than 30% cases

Cerebellar vermis hypoplasia Abnormality of the cerebellar vermis Arrhythmia Hypospadias Abnormality of cardiovascular system morphology Intrauterine growth retardation Mandibular prognathia Abdominal pain Amenorrhea Sepsis Low-set, posteriorly rotated ears Pectus carinatum Decreased body weight Accelerated skeletal maturation Elevated alkaline phosphatase Platyspondyly Poor suck Recurrent infections Prominent forehead Osteopenia Coarse facial features Anxiety Thick eyebrow Recurrent aspiration pneumonia Short distal phalanx of finger Cardiomegaly Abnormality of immune system physiology Gingival overgrowth Renal tubular dysfunction Low anterior hairline Delayed puberty Myelodysplasia Specific learning disability Pulmonary arterial hypertension Cerebellar atrophy Myopathy Ventriculomegaly Narrow mouth Vomiting Optic atrophy Broad forehead Constipation Hyperreflexia Kyphoscoliosis Hypermetropia Abnormality of the foot Amblyopia Deep palmar crease Peripheral neuropathy Hypertonia Hydrocephalus Respiratory insufficiency Premature skin wrinkling Pulmonary hypoplasia Bilateral cryptorchidism Bundle branch block Neuroblastoma Polymicrogyria Severe sensorineural hearing impairment Wolff-Parkinson-White syndrome Hypogonadism Shield chest Multiple lentigines Congenital cataract Dilated cardiomyopathy Abnormal macular morphology Feeding difficulties in infancy EEG abnormality Abnormality of retinal pigmentation Heterotopia Strabismus Dental malocclusion Mitral regurgitation Narrow forehead Cutis laxa Leukemia Rhizomelia Hyperkeratosis Edema Macrocephaly Migraine Atrial fibrillation Chronic kidney disease Delayed speech and language development Clinodactyly Plagiocephaly Syndactyly Renal insufficiency Splenomegaly Abnormality of the sternum Hepatomegaly Frontal bossing Bruising susceptibility Curly hair Everted lower lip vermilion Abnormality of the cardiovascular system Aortic dissection Pes planus Smooth philtrum Retrognathia Arachnodactyly Proteinuria Cystic hygroma Craniosynostosis Dementia Depressivity Gait disturbance Tremor Skeletal muscle atrophy Dysarthria Fatigue Blindness Dysphagia Elevated serum creatine phosphokinase Cerebral atrophy Hyporeflexia Diarrhea Dystonia Areflexia Kyphosis Visual loss Encephalopathy Gait ataxia Myoclonus Malabsorption Generalized tonic-clonic seizures Lethargy Arthrogryposis multiplex congenita Ophthalmoplegia Carious teeth Nausea and vomiting Anal atresia Neurological speech impairment Dysmetria Paresthesia Confusion Ichthyosis Vertigo Peripheral axonal neuropathy Lactic acidosis Pruritus Stroke Diabetes mellitus Photophobia Anemia Weight loss Autism Hypothyroidism Dyspnea Jaundice Myalgia Attention deficit hyperactivity disorder Apnea Mental deterioration Developmental regression Protruding ear Erythema Abnormality of the liver Nyctalopia Visual impairment Loose anagen hair Ataxia Thrombocytopenia Hypoplasia of the abdominal wall musculature Congenital craniofacial dysostosis Aplastic/hypoplastic lacrimal glands Aplasia/Hypoplasia of the nasal bone Neoplasm Myopia Hypotrichosis Absent distal phalanges Facial asymmetry Abdominal distention Abnormal bleeding Wide intermamillary distance Coarctation of aorta Primary amenorrhea Clumsiness Wide nasal ridge Upper eyelid coloboma Arnold-Chiari malformation Abnormality of the skull Anteriorly placed anus Prematurely aged appearance Hypoplastic nipples Protruding tongue Underdeveloped supraorbital ridges Turricephaly Coronal craniosynostosis Absence of subcutaneous fat Sclerocornea Abnormal eyelid morphology Prominent superficial veins Absent nipple Pneumothorax Hypoplasia of the musculature Dermal translucency Azoospermia Pterygium Postductal coarctation of the aorta Neurofibrosarcoma Optic disc hypoplasia Lymphangioma Hypoplastic aortic arch Amegakaryocytic thrombocytopenia Superior pectus carinatum Reduced factor XII activity Panuveitis Schwannoma Juvenile myelomonocytic leukemia Hirsutism Pectus excavatum of inferior sternum Gonadal neoplasm Reduced factor XIII activity Nasogastric tube feeding Preductal coarctation of the aorta Asymmetry of the thorax Synovitis Failure to thrive in infancy Male infertility Cubitus valgus Radial deviation of finger Abnormality of the coagulation cascade Leukocytosis Abnormality of color vision Neurofibromas Abnormality of the vertebral column Restrictive cardiomyopathy Abnormality of blood and blood-forming tissues Gonadal dysgenesis Arnold-Chiari type I malformation Malignant hyperthermia Drusen Nonimmune hydrops fetalis Atrial flutter Nausea Increased serum lactate Nephropathy Gait imbalance Facial diplegia Tubulointerstitial nephritis Visual hallucinations Increased CSF lactate Cerebral ischemia Reduced consciousness/confusion Anterior hypopituitarism Delusions Stroke-like episode Seborrheic dermatitis Left ventricular failure Speech apraxia Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Cardiorespiratory arrest Transient ischemic attack Ileus Hashimoto thyroiditis Thyroiditis Primary adrenal insufficiency Pulmonary embolism Distal arthrogryposis Drowsiness Atopic dermatitis Abnormality of visual evoked potentials Posterior subcapsular cataract Neonatal hypoglycemia Vitiligo Xerostomia Heart block Hypoparathyroidism Mitochondrial myopathy Progressive external ophthalmoplegia Proximal tubulopathy Hemianopia Hyperthyroidism Abnormal mitochondrial shape Paronychia Abnormal mitochondrial morphology Edema of the dorsum of hands Cochlear malformation Progressive night blindness Cochlear degeneration Paralytic ileus Hemeralopia Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Spotty hypopigmentation Crohn's disease Abnormality of the renal tubule Persistence of primary teeth Episodic vomiting Motor polyneuropathy Dysesthesia Psychomotor deterioration Muscle fiber atrophy Writer's cramp Leber optic atrophy Psychotic episodes Spontaneous hematomas Gastroparesis Amaurosis fugax Auditory hallucinations Abnormal nerve conduction velocity Renal Fanconi syndrome Tubulointerstitial abnormality Rhabdomyolysis Basal ganglia calcification Polyneuropathy Truncal ataxia Involuntary movements Anorexia Hallucinations Cerebral visual impairment Clonus Cardiac arrest EMG abnormality Psychosis Hypogonadotrophic hypogonadism Type I diabetes mellitus Exercise intolerance Purpura Macular degeneration Pancreatitis External ophthalmoplegia Hemiparesis Status epilepticus Ragged-red muscle fibers Sensory impairment Coma Postural instability Muscle cramps Abnormal cerebellum morphology Generalized myoclonic seizures Sudden cardiac death Reduced subcutaneous adipose tissue Type II diabetes mellitus Memory impairment Hip dysplasia Cerebral calcification Pigmentary retinopathy Generalized-onset seizure Bilateral sensorineural hearing impairment Nephrotic syndrome Reduced tendon reflexes Ischemic stroke Glomerulopathy Aphasia Mask-like facies Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Abnormality of neuronal migration Overlapping toe Adrenal insufficiency Vestibular dysfunction Aplasia/Hypoplasia of the cerebellum Dysphasia Hyperkalemia Visual field defect Prolonged QT interval Multiple lipomas Vertebral fusion Progressive sensorineural hearing impairment Bifid scrotum Intestinal obstruction Hypopigmented skin patches Atrioventricular block Mutism Schizophrenia Goiter Hyperkinesis Easy fatigability Growth abnormality Cachexia Personality changes Decreased nerve conduction velocity Hypercalciuria Bilateral ptosis Hemiplegia Abnormality of mitochondrial metabolism Hyponatremia Ophthalmoparesis Natal tooth Small nail Anonychia Abnormality of the pulmonary artery Elevated hepatic transaminase Redundant neck skin Aplasia/Hypoplasia of the abdominal wall musculature Abnormal mitral valve morphology Abnormal aortic valve morphology Abnormal localization of kidney Excessive wrinkled skin Sprengel anomaly High forehead Abnormal endocardium morphology Abnormal pulmonary valve morphology Hypoplasia of the ovary Numerous nevi Polydactyly Right ventricular hypertrophy Telecanthus Upslanted palpebral fissure Melanocytic nevus Subcutaneous nodule Cafe-au-lait spot Scapular winging Spina bifida occulta Melanoma Abnormality of the voice Dolichocephaly Multiple cafe-au-lait spots Blepharophimosis External genital hypoplasia Abnormality of the ear Decreased fertility Atrioventricular canal defect Freckling Flexion contracture Talipes equinovarus Abnormality of the genital system Bilateral talipes equinovarus Joint dislocation Microretrognathia Sandal gap Radioulnar synostosis Spondyloepiphyseal dysplasia Metatarsus adductus Thoracic hypoplasia Meningitis Congenital glaucoma Restrictive ventilatory defect Narrow nasal bridge Aortic root aneurysm Upper limb undergrowth Abnormally large globe Elbow flexion contracture Abdominal aortic aneurysm Glaucoma Genu valgum Knee osteoarthritis Uterine prolapse Microtia Hip dislocation Intervertebral disc degeneration Protrusio acetabuli Talipes Abnormal lung morphology Flat face Recurrent fractures Short metacarpal Esotropia Congenital diaphragmatic hernia Blue sclerae Abnormality of the face Myocardial infarction 11 pairs of ribs Pyloric stenosis Mesomelia Sparse eyebrow Preaxial polydactyly Coxa valga Widely spaced teeth Prominent supraorbital ridges Metaphyseal widening Abnormality of the metaphysis Large for gestational age Flared metaphysis Broad hallux Pericardial effusion Abnormal heart valve morphology Thin ribs Long eyelashes Nephronophthisis Short hallux Broad philtrum Metopic synostosis Horizontal ribs Portal fibrosis Bile duct proliferation Cloverleaf skull Skeletal dysplasia Cholangitis Thick lower lip vermilion Wide mouth Finger syndactyly Biliary cirrhosis High anterior hairline Polysplenia Cutaneous finger syndactyly Thickened calvaria Ovoid vertebral bodies Tetralogy of Fallot Neonatal hypotonia Short ribs Hepatic fibrosis Hydrops fetalis Cholestasis Postaxial hand polydactyly Limb undergrowth Ectodermal dysplasia Narrow palpebral fissure Abnormality of the kidney Full cheeks Renal cyst Joint hyperflexibility Nevus Stage 5 chronic kidney disease Hyperbilirubinemia Sparse eyelashes Thick upper lip vermilion Curly eyelashes Broad ribs Broad hallux phalanx Esodeviation Generalized hypertrichosis Deep plantar creases Large sella turcica Concentric hypertrophic cardiomyopathy Widened posterior fossa Erlenmeyer flask deformity of the femurs Congenital, generalized hypertrichosis Bilateral coxa valga Cuboid-shaped vertebral bodies Broad first metatarsal Hypoplastic ischiopubic rami Congenital hypertrophy of left ventricle Overlapping fingers Generalized osteoporosis Tricuspid regurgitation Abnormality of the optic disc Recurrent fungal infections Abnormal posturing Granulocytopenia Pontocerebellar atrophy Abnormality of the mandible Decreased proportion of CD4-positive T cells Abnormality of the thymus Cellular immunodeficiency Muscle flaccidity Pleural effusion Schizencephaly Frontoparietal polymicrogyria Abnormal immunoglobulin level Cutaneous anergy Hypopigmentation of the fundus Hypoplasia of the thymus Aplasia/Hypoplasia of the macula Severe failure to thrive Renal tubular acidosis Graves disease Optic neuropathy Hypopigmentation of hair IgG deficiency Aspiration pneumonia Depressed nasal tip Recurrent viral infections Ocular albinism Acute lymphoblastic leukemia Fair hair Hypoplasia of the pons Chronic mucocutaneous candidiasis Abnormal cortical gyration Decreased T cell activation Ureteral atresia Bronchitis Wide anterior fontanel Oligohydramnios Fused teeth Short palpebral fissure Sparse scalp hair Pachygyria Recurrent urinary tract infections Scrotal hypoplasia Intestinal malrotation Oligodontia Abnormality of the metacarpal bones Abnormality of vision Coarse hair Redundant skin Large hands Convex nasal ridge Hypoplasia of the maxilla Immunoglobulin IgG2 deficiency Short nose Penile hypospadias Severe T-cell immunodeficiency White matter neuronal heterotopia Acute bronchitis Systemic lupus erythematosus Hypoplasia of the corpus callosum Microphthalmia Astigmatism Micropenis Relative macrocephaly Thin upper lip vermilion Conductive hearing impairment Abnormality of the eye Hyperpigmentation of the skin Synophrys Centrally nucleated skeletal muscle fibers Macular atrophy Small face Dilatation of the cerebral artery Thoracic aortic aneurysm Osteochondritis Dissecans Spasticity Low back pain Spondylolisthesis Soft skin Subarachnoid hemorrhage Arterial tortuosity Striae distensae Abnormal joint morphology Immunodeficiency Pneumonia Slender finger Agenesis of corpus callosum Hip osteoarthritis Bilateral elbow dislocations Respiratory failure Multiple joint dislocation Dural ectasia Endocardial fibroelastosis Abnormality of the abdominal wall Lumbar scoliosis Knee dislocation Talipes equinovalgus Shoulder dislocation Metacarpophalangeal joint hyperextensibility Hypertropia Accessory carpal bones Enlarged metaphyses Prominent antitragus Spatulate thumbs Broad distal phalanges of all fingers Recurrent respiratory infections Disproportionate tall stature Neurodevelopmental delay Leukopenia Decreased liver function Progressive microcephaly Lymphopenia Aspiration Increased body weight Recurrent bacterial infections Aplasia/Hypoplasia of the corpus callosum Camptodactyly Infantile muscular hypotonia Adducted thumb Chylothorax Congenital sensorineural hearing impairment Albinism Combined immunodeficiency Palmoplantar cutis laxa Open mouth Muscular hypotonia of the trunk Osteoarthritis Cleft lip Back pain Aortic regurgitation Respiratory tract infection Joint stiffness Severe global developmental delay Cleft upper lip Progressive neurologic deterioration Wide nose Sleep disturbance Neutropenia Hypopigmentation of the skin Delayed myelination Decreased antibody level in blood Hypotelorism Prominent ear helix


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Low-set ears and Aggressive behavior, related diseases and genetic alterations Ptosis and Lower limb muscle weakness, related diseases and genetic alterations Cardiomyopathy and Mitral valve prolapse, related diseases and genetic alterations Strabismus and Dementia, related diseases and genetic alterations Scoliosis and Coma, related diseases and genetic alterations Seizures and Lumbar hyperlordosis, related diseases and genetic alterations