Congestive heart failure, and Low posterior hairline

Diseases related with Congestive heart failure and Low posterior hairline

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


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High 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

High 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

High 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

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Other less relevant matches:

Medium match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Low match AARSKOG-SCOTT SYNDROME


Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

Low match SINGLETON-MERTEN DYSPLASIA


Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

Low match TUBEROUS SCLEROSIS 1; TSC1


Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

Low match NAXOS DISEASE


Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.

NAXOS DISEASE Is also known as keratosis palmoplantaris with arrhythmogenic cardiomyopathy|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|kwwh type i|keratoderma with woolly hair type i|mal de naxos|palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyo

Related symptoms:

  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure
  • Dilatation
  • Arrhythmia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NAXOS DISEASE

Low match LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME


LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.

LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME Is also known as lcps

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Congestive heart failure
  • Sparse hair
  • Ventricular hypertrophy


SOURCES: ORPHANET MENDELIAN

More info about LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME

Low match FIBRODYSPLASIA OSSIFICANS PROGRESSIVA


Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Is also known as stone man syndrome|fop|myositis ossificans progressiva

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

Top 5 symptoms//phenotypes associated to Congestive heart failure and Low posterior hairline

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Low posterior hairline. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cardiomyopathy Cardiomegaly Low-set ears Downslanted palpebral fissures Epicanthus Hypertelorism Pectus excavatum Short neck Ptosis Depressed nasal bridge Abnormal heart morphology Glaucoma Neoplasm Cryptorchidism Micrognathia Scoliosis Generalized hypotonia Low-set, posteriorly rotated ears Muscular hypotonia Abnormal facial shape Fever Abnormality of the dentition Hearing impairment Sparse hair Broad forehead Hypotrichosis Lymphedema Clinodactyly of the 5th finger Alopecia Ventricular septal defect Intellectual disability, mild Anteverted nares Abnormal cardiac septum morphology Hyperextensible skin Webbed neck Strabismus Pain Genu valgum Pulmonic stenosis Myopia Osteopenia Abnormality of cardiovascular system morphology Vomiting Proptosis Hypoplasia of the maxilla Dilatation Inguinal hernia Hernia Hydrocephalus Respiratory failure Behavioral abnormality Pes planus Talipes Talipes equinovarus Arrhythmia Alopecia of scalp Pectus carinatum High palate Flexion contracture Long philtrum Cataract Joint laxity Cerebral cortical atrophy Posteriorly rotated ears Hypertension

Rare Symptoms - Less than 30% cases


Absent eyebrow Aplasia/Hypoplasia of the eyebrow Aspiration Attention deficit hyperactivity disorder Anemia Splenomegaly High anterior hairline Cleft upper lip Infantile spasms Scaling skin Brittle hair Headache Feeding difficulties Curly hair Sparse scalp hair Bicuspid aortic valve Abnormality of the pulmonary artery Patent foramen ovale Exertional dyspnea Aortic root aneurysm Deep palmar crease Nystagmus Edema Abnormality of hair texture Sensorineural hearing impairment Woolly hair Premature skin wrinkling Absent eyelashes Cognitive impairment Atrial septal defect Thrombocytopenia Erythema Clinodactyly Onycholysis Arnold-Chiari type I malformation Multiple lentigines Hamartoma Subcutaneous nodule Failure to thrive Sleep disturbance Kyphosis Dyspnea Hyperhidrosis Cubitus valgus Mitral valve calcification Hyperkeratosis Autism Abnormality of the cerebral white matter Umbilical hernia Abnormality of the kidney Nail dystrophy Irritability Neurofibromas Failure to thrive in infancy Subvalvular aortic stenosis Nevus Respiratory tract infection Cafe-au-lait spot Decreased body weight Myocardial infarction Polyhydramnios Gastroesophageal reflux Hypertrophic cardiomyopathy Aortic valve stenosis Leukemia Poor suck Palmoplantar keratoderma Bruising susceptibility High, narrow palate Abdominal distention Abnormal bleeding Dental malocclusion Coarctation of aorta Ventricular hypertrophy Cutis laxa Constipation Cardiac arrest Respiratory distress Peripheral axonal neuropathy Intellectual disability, severe Malar flattening Cerebral atrophy Hypermetropia Hip dislocation Midface retrusion Kyphoscoliosis Osteoporosis Prominent forehead Delayed skeletal maturation Frontal bossing Short palm Wide nasal bridge Cleft palate Encephalopathy Prominent antitragus Postnatal growth retardation Feeding difficulties in infancy Recurrent respiratory infections Metatarsus adductus Intellectual disability, moderate Hypogonadism Prematurely aged appearance Ventriculomegaly Brachycephaly Short metacarpal Optic atrophy Growth hormone deficiency Amblyopia Left ventricular hypertrophy Abnormality of the skeletal system Microcephaly Motor delay Everted lower lip vermilion Mitral regurgitation Hypothyroidism Osteochondroma Psoriasiform dermatitis Short hallux Osteolysis Epiphora Coxa valga Hypoplasia of the tooth germ Fibrosarcoma Cutaneous photosensitivity Generalized muscle weakness Myositis Smooth philtrum Broad neck Carious teeth Exostoses Thin upper lip vermilion Ectopic ossification Ankylosis Waddling gait Renal insufficiency Synostosis of joints Pes cavus Aortic arch calcification Dentinogenesis imperfecta limited to primary teeth Overbite Unerupted tooth Premature loss of permanent teeth Hip subluxation Stiff neck Aortic valve calcification Broad femoral neck Shallow acetabular fossae Low-grade fever Hyperactivity Osteolytic defects of the phalanges of the hand Periodontitis Heart block Short 1st metacarpal Expanded metatarsals with widened medullary cavities Hypoplastic distal radial epiphyses Expanded metacarpals with widened medullary cavities Soft tissue sarcoma Expanded phalanges with widened medullary cavities Tendon rupture Muscle fiber atrophy Right ventricular dilatation Small cervical vertebral bodies Progressive cervical vertebral spine fusion Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Abnormality of the auditory canal Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Cavernous hemangioma Abnormality of the first metatarsal bone Excessive wrinkled skin Hyperextensibility of the finger joints Inappropriate crying Multiple palmar creases Visual loss Broad palm Recurrent infections Skeletal muscle atrophy Ectopic ossification in muscle tissue Muscle weakness Abnormal vertebral segmentation and fusion Abnormality of the cervical spine Genu recurvatum Broad foot Basal ganglia calcification Megalocornea Shawl scrotum Round face Eyelid fasciculation Ectopic ossification in ligament tissue Delayed eruption of teeth Single transverse palmar crease Short foot Small hand Oral cleft Joint hyperflexibility Finger syndactyly Ectopic ossification in tendon tissue Camptodactyly of finger Oral aversion Multiple plantar creases External ear malformation Nausea Carcinoma Scleroderma Fatigue Projection of scalp hair onto lateral cheek Atherosclerosis Hypercholesterolemia Intracranial hemorrhage Emphysema Coronary artery atherosclerosis Premature graying of hair Basal cell carcinoma Reduced subcutaneous adipose tissue Achromatic retinal patches Lipoatrophy Subungual fibromas Vertigo Rhabdomyoma Connective tissue nevi Alopecia universalis Squamous cell carcinoma of the skin Papillary renal cell carcinoma Coronary artery stenosis Loss of eyelashes Pulmonary carcinoid tumor Pulmonary lymphangiomyomatosis Aortic atherosclerosis Abnormality of the intrahepatic bile duct Chordoma Respiratory insufficiency Dilated cardiomyopathy Tachycardia Difficulty walking Akinesia Abnormal T-wave Acantholysis Right ventricular cardiomyopathy T-wave inversion Paroxysmal ventricular tachycardia Abnormal right ventricle morphology Hypergranulosis Reduced ejection fraction Clubbing of fingers Ventricular extrasystoles Fragile skin Right bundle branch block Ventricular flutter Ventricular arrhythmia Sepsis Ventricular tachycardia Acanthosis nigricans Sparse and thin eyebrow Long eyelashes Abnormal morphology of right ventricular trabeculae Hypertriglyceridemia Palpitations Epidermal acanthosis Cyanosis Abnormal blistering of the skin Ectodermal dysplasia Syncope Sudden cardiac death Pneumonia Cortical tubers Spinal rigidity Specific learning disability Sarcoma Nephroblastoma Aortic aneurysm Precocious puberty Polycystic kidney dysplasia CNS hypomyelination Tachypnea Hypoplasia of dental enamel Back pain Heterotopia Generalized-onset seizure Cerebral calcification Focal-onset seizure Renal cell carcinoma Brain atrophy Gliosis Chest pain Renal cyst Metaphyseal widening Hypopigmentation of the skin Retinal detachment Prolonged QRS complex Cough Stroke Skin rash Hallux valgus Autistic behavior Widely spaced teeth Hyperventilation Cardiac rhabdomyoma Flank pain Conductive hearing impairment Limitation of joint mobility Ungual fibroma Dental enamel pits Hypomelanotic macule Subependymal nodules Optic nerve glioma Angiofibromas Renal angiomyolipoma Short thumb Premature chromatid separation Ependymoma Shagreen patch Adenoma sebaceum Skin tags Abnormal vertebral morphology Fibroma Chylothorax Gingival fibromatosis Pneumothorax Astrocytoma Brain neoplasm Finger clinodactyly Wolff-Parkinson-White syndrome White hair Renal neoplasm Generalized hypopigmentation Abnormality of the respiratory system Abnormal aortic valve morphology Intestinal malrotation Thickened helices Generalized osteoporosis Spatulate thumbs Enlarged metaphyses Accessory carpal bones Hypertropia Shoulder dislocation Multiple joint dislocation Talipes equinovalgus Knee dislocation Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Small face 11 pairs of ribs Metacarpophalangeal joint hyperextensibility Overlapping fingers Abnormally large globe Upper limb undergrowth Narrow nasal bridge Restrictive ventilatory defect Congenital glaucoma Thoracic hypoplasia Bilateral talipes equinovarus Spondyloepiphyseal dysplasia Radioulnar synostosis Sandal gap Accelerated skeletal maturation Microretrognathia Broad distal phalanges of all fingers Bilateral elbow dislocations Elbow flexion contracture Myelodysplasia Drusen Malignant hyperthermia Gonadal dysgenesis Abnormality of blood and blood-forming tissues Neuroblastoma Abnormality of the vertebral column Male infertility Cystic hygroma Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Radial deviation of finger Elevated alkaline phosphatase Brachydactyly Pterygium Arnold-Chiari malformation Azoospermia Plagiocephaly Clumsiness Primary amenorrhea Amenorrhea Wide intermamillary distance Triangular face Facial asymmetry Abdominal pain Rod-cone dystrophy Patent ductus arteriosus Joint dislocation Meningitis Atrial flutter Microcornea Abnormal dermatoglyphics Intellectual disability, progressive Knee flexion contracture Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Clonus Short toe Short phalanx of finger Postnatal microcephaly Lumbar hyperlordosis Hypotelorism Broad nasal tip Polyneuropathy Epiphyseal dysplasia Polymicrogyria Congenital cataract Severe global developmental delay Short philtrum Abnormal pyramidal sign Hyperlordosis Muscular hypotonia of the trunk Micropenis Severe short stature Hyporeflexia Microphthalmia Peripheral neuropathy Spasticity Abnormality of the hand Bilateral cryptorchidism Rhizomelia Microtia Abnormal lung morphology Blue sclerae Congenital diaphragmatic hernia Mitral valve prolapse Microdontia Esotropia Recurrent fractures Thick eyebrow Flat face Arachnodactyly Abnormality of the foot Narrow chest Narrow mouth Spastic diplegia Slender ulna Prominent nipples Broad fingertip Osteopathia striata Abnormality of the distal phalanx of finger Talipes valgus Furrowed tongue Misalignment of teeth Abnormal toenail morphology Abnormality of the antihelix Tracheomalacia Thoracic scoliosis Ulnar deviation of finger Nonimmune hydrops fetalis Restrictive cardiomyopathy Slow-growing hair Abnormality of vision Large for gestational age Obsessive-compulsive behavior Heart murmur Chronic otitis media Melanocytic nevus Ectropion Pleural effusion Sparse eyebrow Bilateral ptosis Redundant skin Deep philtrum Relative macrocephaly Palmoplantar hyperkeratosis Malnutrition Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Oculomotor apraxia Sparse eyelashes Narrow palate Abnormality of the nail Cerebral visual impairment Hyperpigmentation of the skin Open bite Hydroureter Open mouth Abnormality of the ulna Abnormal mitral valve morphology Gastrointestinal dysmotility Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the testis Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Short attention span Abnormality of the gastrointestinal tract Hypoplasia of the zygomatic bone Neurodevelopmental delay Enlarged kidney Abnormal eyelash morphology Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Thickened skin Inflammatory abnormality of the skin Shield chest Gonadal neoplasm Hypertonia Blindness Dysphagia Macrocephaly Dysarthria Hepatomegaly Delayed speech and language development Ataxia Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Pectus excavatum of inferior sternum Depressivity Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Schwannoma Synovitis Short nose High forehead Hemiparesis Long face Fine hair Narrow forehead Abnormality of the cardiovascular system Progressive visual loss Premature birth Vesicoureteral reflux Full cheeks Hepatic steatosis Thick vermilion border Retinal dystrophy Bulbous nose Falls Joint hypermobility Abnormality of skin pigmentation Macrotia Ichthyosis Dry skin Astigmatism Dolichocephaly Pruritus Neurological speech impairment Scarring Abnormality of the eye Telecanthus Aggressive behavior Hydronephrosis EEG abnormality Coarse facial features Aplasia/Hypoplasia of the phalanges of the hallux



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