Congestive heart failure, and Blepharophimosis

Diseases related with Congestive heart failure and Blepharophimosis

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


Top matches:

Medium match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Medium match ARTERIAL TORTUOSITY SYNDROME


Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Medium match 3MC SYNDROME 3; 3MC3


The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 3; 3MC3 Is also known as malpuech facial clefting syndrome, formerly|facial clefting syndrome, gypsy type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3MC SYNDROME 3; 3MC3

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Medium match ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5


Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

Medium match ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS


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

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

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Medium match PROXIMAL 16P11.2 MICRODELETION SYNDROME


The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

Medium match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Medium match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Low match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Top 5 symptoms//phenotypes associated to Congestive heart failure and Blepharophimosis

Symptoms // Phenotype % cases
Scoliosis Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hernia Epicanthus Micropenis Abnormal facial shape Inguinal hernia Delayed speech and language development Microcephaly High palate Hypertension Short nose Myopia Clinodactyly Narrow palpebral fissure Cognitive impairment Abnormality of the pinna Intellectual disability, mild Macrotia Small hand Malar flattening Ptosis Failure to thrive Growth delay Ventriculomegaly Ventricular septal defect Hearing impairment Motor delay Muscular hypotonia Pectus excavatum Bicuspid aortic valve Feeding difficulties Intrauterine growth retardation Behavioral abnormality Obesity Hyperactivity Autism Attention deficit hyperactivity disorder Midface retrusion Umbilical hernia Edema Deeply set eye Short neck Depressed nasal bridge Narrow mouth Low-set, posteriorly rotated ears Full cheeks Wide intermamillary distance Long fingers Scrotal hypoplasia Broad forehead Renal agenesis Pain Abnormality of the dentition Syndactyly Specific learning disability Abnormal heart morphology Depressivity Short palpebral fissure Smooth philtrum Posteriorly rotated ears Protruding ear Hypertrophic cardiomyopathy Triangular face Esotropia Narrow forehead Respiratory distress Dilatation Clinodactyly of the 5th finger Cutis laxa Pointed chin Macrocephaly Craniosynostosis Gastroesophageal reflux Atrial septal defect Cataract Aortic valve stenosis Bulbous nose Hypoplasia of the corpus callosum Talipes equinovarus Arachnodactyly Flexion contracture

Rare Symptoms - Less than 30% cases


Failure to thrive in infancy Bilateral ptosis Decreased muscle mass Hypoventilation Vertebral segmentation defect Overlapping fingers Brachydactyly Infantile muscular hypotonia Ataxia Adducted thumb Periorbital fullness Narrow face Febrile seizures Hypopigmentation of the skin Upslanted palpebral fissure High forehead Abnormality of lipid metabolism Retinopathy Flat face Glucose intolerance Dandy-Walker malformation Hypermetropia Hypoplasia of dental enamel Overfolded helix Overlapping toe Precocious puberty Sensorineural hearing impairment Hyperlordosis Joint stiffness Fever Myopathy Abnormality of the skeletal system Wide mouth 2-3 toe syndactyly Loss of consciousness Long nose Cerebral cortical atrophy Diabetes mellitus Osteoporosis Autistic behavior Recurrent respiratory infections Renal hypoplasia Kyphosis Tapered finger Psychosis Hemivertebrae Microretrognathia Unilateral renal agenesis Arnold-Chiari type I malformation Multiple renal cysts Osteopenia Coarctation of aorta Sacral dimple Abnormality of the cardiovascular system Hypogonadotrophic hypogonadism Delayed skeletal maturation Thin upper lip vermilion Joint laxity Hypertonia Paralysis Type II diabetes mellitus Sleep disturbance Short foot Thick vermilion border Genu valgum Carious teeth Stroke Abnormal cardiac septum morphology Toe syndactyly Pulmonic stenosis Short palm Increased body weight Polydactyly Myocardial infarction Cleft lip Keratoglobus Prematurely aged appearance Abnormal carotid artery morphology Facial cleft Keratoconus Congenital diaphragmatic hernia Patent ductus arteriosus Camptodactyly Telecanthus Muscular hypotonia of the trunk Intellectual disability, moderate Respiratory failure Polymicrogyria Abnormality of the kidney Radioulnar synostosis Talipes Pyloric stenosis Oral cleft Redundant skin Joint hyperflexibility Long face Hip dysplasia Spontaneous abortion Cardiac arrest Pulmonary artery stenosis Hypospadias Sepsis Mask-like facies Arterial stenosis Long philtrum Microphthalmia Aortic arch aneurysm Peripheral pulmonary artery stenosis Decreased plasma carnitine Gait imbalance Obsessive-compulsive trait Nocturia Synostosis of joints Abnormality of refraction Abnormality of the bladder Cerebral ischemia Dyslexia Villous atrophy Enuresis Abnormality of the cerebral vasculature Abnormality of the neck Large earlobe Tubulointerstitial nephritis Right ventricular hypertrophy Chronic constipation Hypoplasia of the zygomatic bone Overriding aorta Tubulointerstitial abnormality Subvalvular aortic stenosis Retinal vascular tortuosity Dysgraphia Periorbital edema Abnormality of nervous system morphology Phonophobia Peptic ulcer Parathyroid hyperplasia Urethral stenosis Abnormal glucose tolerance Increased nuchal translucency Thyroid hypoplasia Rectal prolapse Cystic renal dysplasia Abnormal endocardium morphology Aplasia/Hypoplasia of the iris Bladder diverticulum Lacrimation abnormality Renal duplication Colonic diverticula Vascular tortuosity Abnormal renal morphology Abnormality of the ankles Abnormality of cardiovascular system morphology Poor coordination Blue irides Focal-onset seizure Abnormality of pelvic girdle bone morphology Reduced bone mineral density Arnold-Chiari malformation Schizophrenia Ischemic stroke Widely spaced teeth Progressive hearing impairment Abnormal dermatoglyphics Spina bifida occulta Abnormality of the fingernails Abnormality of dental enamel Nephrocalcinosis Gliosis Increased bone mineral density Polycystic ovaries Hoarse voice Convex nasal ridge Gingival overgrowth Amblyopia Nephrolithiasis Recurrent urinary tract infections Involuntary movements Abnormal form of the vertebral bodies Mitral regurgitation Open mouth Recurrent otitis media Hemiparesis Thick lower lip vermilion Incoordination Dysphonia Vocal cord paralysis Premature graying of hair Down-sloping shoulders Patellar dislocation Abnormality of the vasculature Coronary artery stenosis Soft skin Nevus flammeus Posterior embryotoxon Cardiomyopathy Megalocornea Insomnia Restlessness High hypermetropia Celiac disease Hallux valgus Hypercalciuria Open bite Polyuria Pneumonia Tracheoesophageal fistula Hypoplastic toenails Abnormality of dental morphology Obsessive-compulsive behavior Chronic otitis media Nephritis Abnormality of the voice Portal hypertension Retrognathia Hypercalcemia Cholelithiasis Renal artery stenosis Flat cornea Retinal arteriolar tortuosity Poor suck Narrow nasal bridge Polyphagia External genital hypoplasia Truncal obesity Adrenal insufficiency Skeletal muscle hypertrophy Albinism Inflammation of the large intestine Large hands Emotional lability Radial deviation of finger Hyperinsulinemia Nasal speech Sleep apnea Impaired pain sensation Bradycardia Insulin resistance Clumsiness Primary amenorrhea Cutaneous photosensitivity Decreased fetal movement Oligohydramnios Amenorrhea Growth hormone deficiency Gastrointestinal hemorrhage Downturned corners of mouth Infertility Delayed puberty Myeloid leukemia Striae distensae Dolichocephaly Anteverted ears Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Temperature instability Triangular mouth Disseminated intravascular coagulation Erysipelas Frontal upsweep of hair Clitoral hypoplasia Poor fine motor coordination Pulmonary embolism Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Ocular albinism Chromosome breakage Hypoplasia of the fovea Acrocyanosis Oligomenorrhea Overweight Central hypotonia Iris hypopigmentation Hypopigmentation of hair Pruritus Leukemia Hyperacusis Medial flaring of the eyebrow Hydrocephalus Atrophy/Degeneration involving the corticospinal tracts Vocal cord dysfunction Descending aorta hypoplasia Functional abnormality of male internal genitalia Stellate iris Dyssynergia Early onset of sexual maturation Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Abnormality of the diencephalon Polyhydramnios Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Calcification of the aorta Impaired visuospatial constructive cognition Supravalvular aortic stenosis Ventricular hypertrophy Abnormal social behavior Renovascular hypertension Abnormality of the gastric mucosa Infantile hypercalcemia Food intolerance Pelvic kidney Agenesis of corpus callosum Skeletal dysplasia Respiratory tract infection Olivopontocerebellar hypoplasia Apnea Abnormality of the nervous system Neonatal hypotonia Hypoglycemia Photophobia Weight loss Hypogonadism Prominent forehead Hyporeflexia Vomiting Intellectual disability, severe Neoplasm Nystagmus Hypoplastic aortic arch Aggressive behavior Spotty hypopigmentation Long neck Otosclerosis Narrow nose Epiphyseal stippling Broad hallux Ectopic kidney Self-injurious behavior Downslanted palpebral fissures Single transverse palmar crease Wide nose Ichthyosis Prominent nasal bridge Small nail Vesicoureteral reflux Sloping forehead Abnormality of the rib cage Decreased facial expression Amyoplasia Limited wrist extension Absent phalangeal crease Congenital finger flexion contractures Round ear Decreased palmar creases Ulnar deviation of the wrist Duane anomaly Unilateral ptosis Retinal fold Tapetoretinal degeneration Highly arched eyebrow Exophoria Distal arthrogryposis Aplasia/Hypoplasia of the radius Ulnar deviation of finger Abnormality of the sternum Tarsal synostosis Abnormality of the hip bone Omphalocele Restrictive ventilatory defect Macular dystrophy Wormian bones Bilateral talipes equinovarus Congenital contracture Firm muscles Internally rotated shoulders Abnormality of the genitourinary system Short metacarpal Growth abnormality Ventricular arrhythmia Oligodontia Ventricular tachycardia Scapular winging Short chin Short phalanx of finger Decreased body weight Palpitations Tetraparesis Femoral hernia Median cleft lip and palate Syncope Muscle weakness Hypoplasia of the maxilla Delayed eruption of teeth Long palm Inability to walk Tachycardia Facial asymmetry Abnormality of the zygomatic bone Conductive hearing impairment Gait ataxia Arrhythmia Postnatal growth retardation Cleft upper lip Abnormal electroretinogram Bilateral single transverse palmar creases Hypokalemia Bilateral cleft lip and palate Shawl scrotum Irregular vertebral endplates Tricuspid regurgitation Broad foot Optic nerve hypoplasia Generalized hirsutism Thickened skin Bilateral cleft lip Abnormality of the face Hypertrichosis Short 5th finger Diastasis recti Abnormality of the skin Cerebellar vermis atrophy Nevus Bilateral conductive hearing impairment Microcornea Skin dimples Severe global developmental delay Microtia Epicanthus inversus Penoscrotal hypospadias Caudal appendage Urethral valve Brachycephaly Prominent coccyx Abnormality of the musculature Hamartoma Preaxial polydactyly Elbow dislocation Joint contracture of the hand Abnormality of retinal pigmentation Abnormal lung morphology Lumbar hyperlordosis Webbed neck Abnormality of skin pigmentation Astigmatism Abnormality of the foot Abnormality of eye movement Ophthalmoplegia Arthrogryposis multiplex congenita Epiphyseal dysplasia Bifid scrotum Neuroblastoma Alopecia Areflexia Supernumerary nipple Localized neuroblastoma Increased number of skin folds Abnormality of the scrotum Upper limb asymmetry Median cleft palate Broad eyebrow Lower limb asymmetry External ear malformation Irregular hyperpigmentation Hypoplastic nipples Short metatarsal Myotonia Hypsarrhythmia Glaucoma Scarring Irritability Developmental regression Feeding difficulties in infancy Proteinuria Anxiety Pes planus Coarse facial features Arthralgia Fatigue Kyphoscoliosis Hypothyroidism Abdominal pain Wide nasal base Dyspnea Hip dislocation Dilated cardiomyopathy Cerebellar hypoplasia Constipation Elevated serum creatine phosphokinase Absent speech Renal insufficiency Gait disturbance Tremor Dysarthria Hyperreflexia Narrow naris Small for gestational age Spasticity Chest pain Cardiomegaly Abnormality of extrapyramidal motor function Hypoplasia of penis Mitral valve prolapse Hypotelorism Focal impaired awareness seizure Tetralogy of Fallot Dehydration Microdontia Otitis media Right bundle branch block Dental malocclusion Sudden cardiac death Corneal opacity Macroglossia Broad nasal tip Hypodontia Postural instability Bundle branch block Everted lower lip vermilion Disproportionate tall stature Dysmetria Entropion Malabsorption Cavum septum pellucidum Nausea and vomiting Neurological speech impairment Visual impairment Absent nasal bridge Preauricular pit Delayed eruption of permanent teeth Anteverted nares Aortic dissection Esophagitis Prominent U wave Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Periodic hyperkalemic paralysis Short mandibular rami Periodic hypokalemic paresis Clinodactyly of the 5th toe Toe clinodactyly Persistence of primary teeth Cardiorespiratory arrest Periodic paralysis Scaphocephaly Hyperthyroidism Abnormal heart valve morphology Slender long bone Myocarditis Agenesis of permanent teeth Prolonged QT interval Hyperkalemia High pitched voice Abnormal myocardium morphology Avascular necrosis of the capital femoral epiphysis Respiratory insufficiency Immunodeficiency Widely-spaced maxillary central incisors Hand polydactyly Chorioretinitis Pulmonary artery atresia Optic nerve coloboma Hydrocele testis Missing ribs Severe intrauterine growth retardation Thin skin Severe combined immunodeficiency Syringomyelia Combined immunodeficiency Anophthalmia Language impairment Aortic regurgitation Recurrent infections Coxa valga Coxa vara Short toe Hyperextensible skin Underdeveloped nasal alae Renal cyst Aortic aneurysm Coloboma Rocker bottom foot Telangiectasia of the skin EEG abnormality Aortic root aneurysm Hiatus hernia Acromicria



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Toe syndactyly, related diseases and genetic alterations Motor delay and Nephropathy, related diseases and genetic alterations Neuroblastoma and Skin rash, related diseases and genetic alterations High palate and Asthma, related diseases and genetic alterations Immunodeficiency and Cutaneous photosensitivity, related diseases and genetic alterations Strabismus and Cleft upper lip, related diseases and genetic alterations Generalized hypotonia and Stroke, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more