Congestive heart failure, and Pectus carinatum

Diseases related with Congestive heart failure and Pectus carinatum

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


Top matches:

Medium match NEMALINE MYOPATHY 1; NEM1


Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Medium match MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM


Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

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Other less relevant matches:

Medium match LEOPARD SYNDROME 1; LPRD1


LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

Medium match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE


Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Medium match MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

Medium match CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME


This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME Is also known as martsolf syndrome|cataract-mental retardation-hypogonadism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME

Medium match LARSEN-LIKE SYNDROME, B3GAT3 TYPE


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

Medium match COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Medium 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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Pectus carinatum

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Pectus excavatum Common - Between 50% and 80% cases
Short stature 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 Pectus carinatum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Kyphoscoliosis

Uncommon Symptoms - Between 30% and 50% cases


Kyphosis

Common Symptoms - More than 50% cases


Pes planus

Uncommon Symptoms - Between 30% and 50% cases


Hyperlordosis

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus Global developmental delay Hypertelorism Sensorineural hearing impairment Depressed nasal bridge Cataract Hernia Low-set ears Short neck Flexion contracture Downslanted palpebral fissures Muscle weakness Muscular hypotonia High palate Hearing impairment Strabismus Respiratory distress Seizures Inguinal hernia Intellectual disability, mild Respiratory insufficiency Micrognathia Motor delay Cardiomyopathy Glaucoma Pain Myopia Gait disturbance Talipes equinovarus Abnormality of the skeletal system Cryptorchidism Dilatation Mitral regurgitation Joint laxity Dental malocclusion Aortic root aneurysm Mitral valve prolapse Esotropia Polyneuropathy Joint hypermobility Arachnodactyly Talipes Retinal detachment Edema Amblyopia Microcephaly Abnormal lung morphology Abnormality of cardiovascular system morphology Sleep apnea Restrictive ventilatory defect Frontal bossing Overgrowth Midface retrusion Mandibular prognathia Postnatal growth retardation Pulmonic stenosis Abnormal facial shape Posteriorly rotated ears Peripheral neuropathy Short metacarpal Low posterior hairline Abnormal heart morphology Webbed neck Cerebral cortical atrophy Malar flattening Myopathy Cleft palate Narrow chest Lumbar hyperlordosis

Rare Symptoms - Less than 30% cases


Prominent forehead Osteoporosis Osteopenia Waddling gait Dolichocephaly Joint hyperflexibility Generalized muscle weakness Bruising susceptibility Single transverse palmar crease Long face Microcornea Abnormal bleeding Blue sclerae Dental crowding Tall stature Joint dislocation Aortic regurgitation Hyperextensible skin Decreased fetal movement Brachydactyly Cognitive impairment Narrow face Ptosis Decreased muscle mass Arrhythmia Knee flexion contracture Micropenis Neonatal hypotonia Hypertrophic cardiomyopathy Protruding ear Triangular face Heart murmur Chest pain Open mouth Spina bifida occulta Pterygium Cubitus valgus Bilateral cryptorchidism Hypertension Abnormal aortic valve morphology Multiple lentigines Aortic aneurysm Slender finger Disproportionate tall stature Hypertonia Anteverted nares Ventricular septal defect Fever Emphysema Pes cavus Prominent antitragus Metatarsus adductus Hypertropia Hypoplasia of the maxilla Delayed skeletal maturation Everted lower lip vermilion Optic atrophy Ventriculomegaly Intellectual disability, severe Severe global developmental delay Feeding difficulties in infancy Low-set, posteriorly rotated ears Hypogonadism Brachycephaly Hydrocephalus Redundant skin Incisional hernia Retrognathia Soft skin Aortic dissection Patent foramen ovale Bicuspid aortic valve Cutis laxa Dural ectasia Lymphedema Left ventricular hypertrophy Clinodactyly Narrow palate Thick eyebrow Gastroesophageal reflux Peripheral axonal neuropathy High, narrow palate Cardiomegaly Decreased body weight Abnormal cardiac septum morphology Elbow flexion contracture Proptosis Neoplasm Abnormal mitral valve morphology Retinoschisis Spondyloepiphyseal dysplasia Macrocephaly Restrictive cardiomyopathy Abnormal form of the vertebral bodies Coarse facial features Conductive hearing impairment Thoracic kyphosis Back pain Genu valgum Flat face Prominent supraorbital ridges Widely spaced teeth Nystagmus High myopia Osteoarthritis Rhizomelia Wide nasal bridge Abnormality of the cardiovascular system Myelopathy Hip dislocation Broad forehead Apnea Limited elbow movement Severe short stature Constipation Ventricular hypertrophy Juvenile myelomonocytic leukemia Abnormality of the foot Hypermetropia Microtia Narrow nasal bridge Amenorrhea Nasogastric tube feeding Reduced factor XIII activity Coarctation of aorta Abdominal distention Upper limb undergrowth Abnormally large globe Patent ductus arteriosus Male infertility Wide intermamillary distance Radioulnar synostosis Facial asymmetry Meningitis Polyhydramnios Sparse hair Leukemia Sandal gap Accelerated skeletal maturation Bilateral talipes equinovarus Thoracic hypoplasia Microretrognathia Hypotrichosis Abdominal pain Rod-cone dystrophy Abnormality of the vertebral column Congenital diaphragmatic hernia Microdontia Congenital glaucoma Recurrent fractures Pectus excavatum of inferior sternum Gonadal neoplasm Loose anagen hair Anteriorly placed anus Primary amenorrhea Myelodysplasia Cardiac arrest Clonus Short toe Elevated alkaline phosphatase Short phalanx of finger Postnatal microcephaly Failure to thrive in infancy Hypotelorism Growth hormone deficiency Broad nasal tip Short palm Hypogonadotrophic hypogonadism Preductal coarctation of the aorta Polymicrogyria Radial deviation of finger Abnormality of the coagulation cascade Congenital cataract Short philtrum Abnormal pyramidal sign Leukocytosis Abnormality of color vision Neurofibromas Hypergonadotropic hypogonadism Intellectual disability, progressive Clumsiness Talipes valgus Narrow mouth Cystic hygroma Thrombocytopenia Azoospermia Arnold-Chiari malformation Slender ulna Prominent nipples Broad fingertip Osteopathia striata Abnormality of the distal phalanx of finger Furrowed tongue Abnormal dermatoglyphics Misalignment of teeth Abnormal toenail morphology Abnormality of the antihelix Tracheomalacia Thoracic scoliosis Ulnar deviation of finger Prematurely aged appearance Spastic diplegia Poor suck Epiphyseal dysplasia Abnormality of the hand Plagiocephaly Splenomegaly Overlapping fingers Abnormal diaphysis morphology Schizophrenia Craniofacial hyperostosis Aplasia/Hypoplasia of the corpus callosum Delayed closure of the anterior fontanelle Hypoplastic aortic arch Advanced eruption of teeth Hyperextensibility of the finger joints Rectal prolapse Premature loss of primary teeth Coxa valga Thick nasal alae Intellectual disability, moderate Abnormality of the hair Amegakaryocytic thrombocytopenia Superior pectus carinatum Wide anterior fontanel Abnormality of retinal pigmentation Narrow iliac wings Thick lower lip vermilion Cerebellar vermis hypoplasia Psychosis Tetraplegia Broad finger Lymphangioma Self-injurious behavior Delayed eruption of teeth Malignant hyperthermia Thickened calvaria Broad palm Abnormality of digit Progressive spasticity Broad hallux Spinal canal stenosis Loss of consciousness Abnormality of neuronal migration Cutis marmorata Large hands Drusen Optic disc hypoplasia Severe sensorineural hearing impairment Nonimmune hydrops fetalis Atrial flutter Acrocyanosis Hypoplastic fingernail Aplasia/Hypoplasia of the cerebellum Shield chest Abnormality of dental morphology Synovitis Schwannoma Asymmetry of the thorax Hypodontia Abnormal tricuspid valve morphology 11 pairs of ribs Feeding difficulties Enlarged metaphyses Neurofibrosarcoma Gonadal dysgenesis Abnormality of blood and blood-forming tissues Neuroblastoma Accessory carpal bones Shoulder dislocation Drumstick terminal phalanges Panuveitis Multiple joint dislocation Talipes equinovalgus Reduced factor XII activity Atrial septal defect Vomiting Knee dislocation Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Deep palmar crease Small face Atonic seizures Generalized osteoporosis Headache Arnold-Chiari type I malformation Abnormality of the nasal alae Tapered finger Telecanthus Highly arched eyebrow Thick vermilion border Wide nose Short distal phalanx of finger Dilated cardiomyopathy Neurological speech impairment Hyperconvex fingernails Wide mouth Cataplexy Mental deterioration Macrotia Spatulate thumbs Hypoplasia of the corpus callosum Skeletal muscle atrophy Stooped posture Pseudoepiphyses of the metacarpals Bilateral elbow dislocations Lumbar kyphosis Uterine prolapse Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Bifid sternum Thick nasal septum Coarse hair Decreased pulmonary function Muscular hypotonia of the trunk Urinary incontinence Protuberant abdomen Rhinitis Abnormal heart valve morphology Short finger Bowel incontinence Multiple joint contractures Hoarse voice Thickened skin Otitis media Abnormality of the skin Prominent nose Full cheeks Abnormality of the skull Hirsutism Hepatosplenomegaly Umbilical hernia Hepatomegaly Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Limited hip movement Cervical myelopathy Papilledema Clubbing of fingers Ovoid vertebral bodies Abnormality of nasopharyngeal adenoids Myocardial infarction Syncope Delayed puberty Hyperkeratosis Alopecia Depressivity Hypospadias Fatigue Delayed speech and language development Ridged cranial sutures Abnormality of the Eustachian tube Restricted chest movement Thoracolumbar kyphosis Recurrent upper and lower respiratory tract infections Tonsillitis Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Functional motor deficit Heparan sulfate excretion in urine Obstructive lung disease Thenar muscle atrophy Expressive language delay Flared nostrils Mucopolysacchariduria Wrist flexion contracture Flattened epiphysis Barrel-shaped chest Abnormality of the genital system Muscle stiffness Facial diplegia Neck muscle weakness Difficulty running Centrally nucleated skeletal muscle fibers Difficulty climbing stairs Myopathic facies Increased variability in muscle fiber diameter Congenital muscular dystrophy Easy fatigability EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Progressive muscle weakness Distal lower limb amyotrophy Frequent falls Sensory impairment Falls Arthrogryposis multiplex congenita Muscular dystrophy Distal muscle weakness Facial palsy Proximal muscle weakness Dyspnea Respiratory failure Dysphagia Nemaline bodies Distal lower limb muscle weakness Vitreoretinopathy Limb undergrowth Hypoplasia of the odontoid process Disproportionate short stature Progressive sensorineural hearing impairment Short thorax Vestibular dysfunction Bowing of the legs Genu varum Growth abnormality Coxa vara Abnormality of epiphysis morphology Abnormality of the metaphysis Limitation of joint mobility Slender build Pulmonary hypoplasia Retinal degeneration Paresthesia Micromelia Platyspondyly Autoimmunity Respiratory tract infection Arthritis Skeletal dysplasia Polydactyly Shoulder girdle muscle atrophy Myokymia Depressed nasal ridge Cafe-au-lait spot Recurrent respiratory infections Abnormality of the sternum Pulmonary edema Spondylolisthesis Genu recurvatum Obstructive sleep apnea Meningocele Arachnoid cyst Hypoplasia of the iris Subarachnoid hemorrhage Megalocornea Dilatation of the cerebral artery Striae distensae Reduced subcutaneous adipose tissue Homocystinuria Open bite Large for gestational age Rocker bottom foot Epiphora Hammertoe Congenital contracture Ectopia lentis Spontaneous abortion Exotropia Stroke Camptodactyly Low back pain Pneumothorax Visual loss Anisometropia Hyporeflexia Encephalopathy Cerebral atrophy Microphthalmia Long philtrum Spasticity Inferior oblique muscle overaction Medial rotation of the medial malleolus Mitral annular calcification Pulmonary artery dilatation Increased axial length of the globe Overjet Hypoplasia of the musculature Spontaneous pneumothorax Cystic medial necrosis Microspherophakia Flat cornea Hypopnea Premature osteoarthritis Protrusio acetabuli Tricuspid valve prolapse Endocarditis Thoracic aortic aneurysm Overbite Ascending tubular aorta aneurysm Deeply set eye Progressive congenital scoliosis Aortic valve stenosis Delayed menarche Sepsis Unsteady gait Retinopathy Abnormality of metabolism/homeostasis Blindness Visual impairment Aplasia of the ovary Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Parietal bossing Oligohydramnios Subvalvular aortic stenosis Hyposmia Angina pectoris Missing ribs Heart block Multiple cafe-au-lait spots Severe hearing impairment Bundle branch block Unilateral renal agenesis Mutism Scapular winging Gastrointestinal hemorrhage Thin skin Spontaneous rupture of the globe Bladder diverticulum Molluscoid pseudotumors Arterial rupture Moderate myopia Wrist drop Premature rupture of membranes Palmoplantar cutis laxa Arterial dissection Keloids Thoracic kyphoscoliosis Lens luxation Subcutaneous hemorrhage Generalized joint laxity Insulin resistance Atypical scarring of skin Keratoconus Abnormality of the hip bone Atrophic scars Intracranial hemorrhage Corneal dystrophy Torticollis Hyperbilirubinemia Increased body weight Recurrent pneumonia Spina bifida Joint contracture of the hand Postductal coarctation of the aorta



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