Cardiomyopathy, and Single transverse palmar crease
Diseases related with Cardiomyopathy and Single transverse palmar crease
In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Single transverse palmar crease that can help you solving undiagnosed cases.
Top matches:
Medium match PENOSCROTAL TRANSPOSITION
Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).
PENOSCROTAL TRANSPOSITION Is also known as dihydrotestosterone receptor deficiency|testicular feminization syndrome|androgen receptor deficiency|dhtr deficiency|ar deficiency|tfm
Related symptoms:
- Intellectual disability
- Neoplasm
- Micrognathia
- Cryptorchidism
- Epicanthus
SOURCES: OMIM ORPHANET MENDELIAN
More info about PENOSCROTAL TRANSPOSITIONMedium match ANDERSEN-TAWIL SYNDROME
Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.
ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7
Related symptoms:
- Short stature
- Scoliosis
- Hypertelorism
- Micrognathia
- Abnormal facial shape
More info about ANDERSEN-TAWIL SYNDROME
Medium match ROIFMAN SYNDROME
Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.
ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES: ORPHANET OMIM MENDELIAN
More info about ROIFMAN SYNDROME
Too many results?
We can help you with your rare disease diagnosis.
Other less relevant matches:
Medium match JOHANSON-BLIZZARD SYNDROME
Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.
JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about JOHANSON-BLIZZARD SYNDROMEMedium match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome
Related symptoms:
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
- Growth delay
SOURCES: ORPHANET OMIM MENDELIAN
More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIAMedium 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 SYNDROMEMedium match YUNIS-VARON SYNDROME
Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).
YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about YUNIS-VARON SYNDROMEMedium match COHEN SYNDROME; COH1
Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).
COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about COHEN SYNDROME; COH1
Medium match CORNELIA DE LANGE SYNDROME 1; CDLS1
The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling.
CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about CORNELIA DE LANGE SYNDROME 1; CDLS1
Low match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1
Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017).
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1 Is also known as tosti syndrome|nslh
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hypertelorism
More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1; NSLH1
Top 5 symptoms//phenotypes associated to Cardiomyopathy and Single transverse palmar crease
| Symptoms // Phenotype | % cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Intellectual disability | Common - Between 50% and 80% cases |
| Global developmental delay | Common - Between 50% and 80% cases |
| Generalized hypotonia | Common - Between 50% and 80% cases |
| Abnormal facial shape | Common - Between 50% and 80% cases |
Accelerate your rare disease diagnosis with us
Other less frequent symptoms
Patients with Cardiomyopathy and Single transverse palmar crease. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Microcephaly
Uncommon Symptoms - Between 30% and 50% cases
Growth delay
Common Symptoms - More than 50% cases
Hypertelorism
Uncommon Symptoms - Between 30% and 50% cases
Muscular hypotonia
Common Symptoms - More than 50% cases
Strabismus
Uncommon Symptoms - Between 30% and 50% cases
Macrocephaly
Common Symptoms - More than 50% cases
Cryptorchidism
Uncommon Symptoms - Between 30% and 50% cases
Ventricular septal defect
Common Symptoms - More than 50% cases
Postnatal growth retardation
Uncommon Symptoms - Between 30% and 50% cases
Clinodactyly of the 5th finger Intrauterine growth retardation Downslanted palpebral fissures Atrial septal defect Anteverted nares Depressed nasal bridge Hearing impairment Joint laxity Thin upper lip vermilion Cognitive impairment Low-set ears Edema Failure to thrive Micrognathia Scoliosis Feeding difficulties Inguinal hernia Abnormality of the skeletal system Macrotia High, narrow palate Hydrocephalus High palate Highly arched eyebrow Abnormal heart morphology Ptosis Long philtrum Optic atrophy Short metacarpal Tapered finger Hypertension Hypoplasia of the maxilla Sensorineural hearing impairment Hypospadias Bilateral single transverse palmar creases Widely spaced teeth Webbed neck Long eyelashes Sparse scalp hair Triangular face Thick vermilion border Short metatarsal Astigmatism Joint hypermobility Pulmonic stenosis Feeding difficulties in infancy High forehead Gastroesophageal reflux Polyhydramnios Prominent forehead Pectus excavatum Thrombocytopenia Respiratory distress Short neck Micropenis Pectus carinatum Hepatomegaly Hypertrophic cardiomyopathy Small hand Downturned corners of mouth Brachydactyly Mandibular prognathia Abnormality of digit Hypoplasia of the corpus callosum Delayed skeletal maturation Abnormal cardiac septum morphology Small for gestational age Syndactyly Clinodactyly Cataract Retrognathia Dilatation Protruding ear Delayed eruption of teeth Intellectual disability, severe Severe global developmental delay Epicanthus Seizures Dilated cardiomyopathy Growth hormone deficiency Thick eyebrow Toe syndactyly Thin vermilion border Hernia Abnormality of dental morphology
Rare Symptoms - Less than 30% cases
Abnormality of the dentition Abnormality of the pinna Abnormality of cardiovascular system morphology Anemia Short philtrum Narrow mouth Severe short stature Upslanted palpebral fissure Diabetes mellitus Hypothyroidism Microdontia Hypotrichosis Low anterior hairline Hypoplastic nipples Anteriorly placed anus Weak cry Clitoral hypertrophy Hip dislocation Cafe-au-lait spot Convex nasal ridge Proptosis Self-injurious behavior Cerebellar hypoplasia Kyphoscoliosis Nystagmus Pyloric stenosis Short middle phalanx of finger Ventriculomegaly Premature loss of primary teeth Hypoplastic labia majora Cutis marmorata Hypertonia Kyphosis Pes planus Behavioral abnormality Telecanthus Neoplasm Wide mouth Neurological speech impairment Joint hyperflexibility Hypodontia Cerebellar vermis hypoplasia Open mouth Abnormality of retinal pigmentation Myopia Facial hypotonia Delayed speech and language development Otitis media Microphthalmia Motor delay Abnormality of the urinary system Gait disturbance Frontal bossing High myopia Posteriorly rotated ears Sparse hair Redundant skin Microcornea Respiratory tract infection Low posterior hairline Mitral regurgitation Hyperpigmentation of the skin Hydrops fetalis Torticollis Deep philtrum Failure to thrive in infancy Prominent nasal bridge Cubitus valgus Proximal placement of thumb Synophrys Hiatus hernia Wide nose Cleft palate Cardiomegaly Broad forehead Relative macrocephaly Eczema Underdeveloped nasal alae Premature birth Retinal dystrophy Intellectual disability, mild Oligodontia Short phalanx of finger 2-3 toe syndactyly Hepatosplenomegaly Short finger Agenesis of corpus callosum Pneumonia Short digit Fatigue Splenomegaly Vomiting Hyperactivity Malar flattening Cerebral cortical atrophy Short toe Growth abnormality Obesity Prominent eyelashes Pleural effusion Dolichocephaly Wide intermamillary distance Absent hand Hypoplastic male external genitalia Curly eyelashes Phocomelia Gastroparesis Supernumerary ribs Shortening of all distal phalanges of the toes Rod-cone dystrophy Aplasia of the 1st metacarpal Aplasia/Hypoplasia of the proximal phalanx of the hallux Slender long bones with narrow diaphyses Reduced visual acuity Hand oligodactyly Hypertropia Aplasia/Hypoplasia of the hallux Bilateral external ear deformity Absent sternal ossification Left-to-right shunt Broad secondary alveolar ridge Projectile vomiting Neonatal hypotonia Arthritis Generalized hypotrichosis Abnormality of the scapula Esophageal stenosis Short proximal phalanx of hallux Perimembranous ventricular septal defect Blindness Narrow nasal base Aplasia/Hypoplasia of the scapulae Aplasia of the distal phalanges of the hand Abnormality of dental structure Aplasia/hypoplasia of the 1st metatarsal Aplasia of the distal phalanx of the hallux Abnormality of the occipital bone Esophagitis Abnormality of the gastrointestinal tract Visual impairment Aspiration pneumonia Abnormal parietal bone morphology Short sternum Tapered toe Optic nerve coloboma Poor appetite Recurrent infections Thick upper lip vermilion Abnormal pelvis bone morphology Recurrent hypoglycemia Visual loss Volvulus Panhypopituitarism Peters anomaly Duplication of internal organs Narrow philtrum Gingival recession Absent eyebrow Short clavicles Aplasia/Hypoplasia of the thumb Abnormality of blood and blood-forming tissues Attention deficit hyperactivity disorder Thin ribs Severe hearing impairment Absent thumb Aplasia/Hypoplasia of the eyebrow Anonychia Flared metaphysis Metatarsus adductus Ichthyosis Rocker bottom foot Sparse eyebrow Glossoptosis Nasal speech Abnormality of pelvic girdle bone morphology Tented upper lip vermilion Sparse eyelashes Arnold-Chiari type I malformation Megalencephaly Deep palmar crease Slow-growing hair Small posterior fossa Short chin Short ribs Sparse and thin eyebrow Short thumb Large fontanelles Inverted nipples Severe failure to thrive Aplasia/Hypoplasia of the clavicles Increased nuchal translucency Hypoplastic facial bones Aplasia/Hypoplasia of the nails Aplasia/Hypoplasia of the distal phalanges of the hand Renal artery stenosis Renovascular hypertension Intellectual disability, moderate Multiple skeletal anomalies Malrotation of colon Aplasia/Hypoplasia of the middle phalanges of the hand Otitis media with effusion Reduced renal corticomedullary differentiation Generalized neonatal hypotonia Short upper lip Abnormality of the umbilicus Wide cranial sutures Sclerocornea Arrhinencephaly Congenital microcephaly Aplastic clavicle Hypoplastic radial head Small earlobe Bilateral microphthalmos Absent nipple Aplasia/Hypoplasia of the nipples Redundant neck skin Abnormality of the neck Decreased skull ossification Hypoplastic scapulae Dysplastic tricuspid valve Abnormality of finger Hypoplasia of the frontal lobes Ectopic kidney Ectrodactyly Subcapsular cataract Bone spicule pigmentation of the retina Macular edema Furrowed tongue Deep venous thrombosis Misalignment of teeth Vocal cord paralysis Microglossia Gingivitis Conductive hearing impairment Posterior subcapsular cataract Small nail Peripheral visual field loss Thoracic scoliosis Celiac disease Abnormality of the larynx Proteinuria Narrow nasal bridge Abnormality of the hip bone Truncal obesity Disproportionate tall stature Cerebral hemorrhage Constriction of peripheral visual field Rheumatoid arthritis Intracranial hemorrhage Radioulnar synostosis Precocious puberty Reduced number of teeth Laryngomalacia Hypoglycemia Autism Venous thrombosis Chorioretinal dystrophy Hemeralopia Chorioretinal dysplasia High-pitched cry Thick corpus callosum Macrodontia of permanent maxillary central incisor Childhood-onset truncal obesity Hypoplastic philtrum Cat cry Slender toe Cutis gyrata of scalp Wide nasal bridge Fever Talipes equinovarus Headache Aplasia/Hypoplasia of the earlobes Hyperhidrosis Brachycephaly Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Granulocytopenia Glaucoma Bull's eye maculopathy Macrodontia Iris atrophy Thick hair Tapetoretinal degeneration Recurrent aphthous stomatitis Recurrent skin infections Leukopenia Paralysis Arachnodactyly Aspiration Increased body weight Aciduria Prominent nose Elbow flexion contracture Spontaneous abortion Neutropenia Retinal detachment Iris coloboma Abnormality of skin pigmentation Retinal degeneration Hypoplasia of the radius Incoordination Smooth philtrum Recurrent urinary tract infections Genu valgum Clubbing Delayed puberty Tricuspid regurgitation Narrow palm Finger syndactyly Opisthotonus Limited elbow extension Stroke Dislocated radial head Nyctalopia Oligodactyly Retinopathy Progressive visual loss Pigmentary retinopathy Sandal gap Micromelia Intellectual disability, progressive Preauricular skin tag Progressive microcephaly Gingival overgrowth Exotropia Tall stature Clumsiness Lumbar hyperlordosis Aggressive behavior Camptodactyly Pallor Autistic behavior Craniosynostosis Vertigo Choanal atresia Cleft upper lip Pulmonary hypoplasia Hirsutism Sleep disturbance Renal cyst Sepsis Vesicoureteral reflux Congenital diaphragmatic hernia Blue sclerae Renal hypoplasia Decreased fetal movement Hypertrichosis Mitral valve prolapse Narrow forehead Pachygyria Mental deterioration Pulmonary arterial hypertension Tachypnea Short nose Biconvex vertebral bodies Irregular femoral epiphysis Noncompaction cardiomyopathy Humoral immunodeficiency Pulmonary edema Narrow nose Irregular vertebral endplates Hip contracture Long palpebral fissure Partial agenesis of the corpus callosum Spondyloepiphyseal dysplasia Eosinophilia Narrow palpebral fissure Elevated hepatic transaminase Finger clinodactyly Recurrent pneumonia Meningitis Sinusitis Recurrent otitis media Tachycardia Lymphadenopathy Hypogonadism Immunodeficiency Aplasia/Hypoplasia of the maxilla Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Muscle fiber tubular inclusions Alopecia Hydronephrosis Periodic hypokalemic paresis Abnormality of the genitourinary system Abnormal hair pattern Calvarial skull defect Fair hair Exocrine pancreatic insufficiency Anal stenosis Facial cleft Hypopituitarism Glycosuria Agenesis of permanent teeth Steatorrhea Hydroureter Dextrocardia Congenital sensorineural hearing impairment Portal hypertension Severe muscular hypotonia Cleft lip Hyperbilirubinemia Pointed chin Hypocalcemia Abnormality of the nail Situs inversus totalis Cholestasis Hypoplasia of penis Intestinal malrotation Generalized muscle weakness Abdominal distention Hepatic failure Anal atresia Malabsorption Abnormality of the liver Effort-induced polymorphic ventricular tachycardias Short mandibular rami Rectovaginal fistula Elevated circulating follicle stimulating hormone level Blind vagina Absent facial hair Female external genitalia in individual with 46,XY karyotype Abnormal external genitalia Penoscrotal hypospadias Abnormality of the urethra Nephrogenic diabetes insipidus Dimple chin Perineal hypospadias Pseudohypoparathyroidism Elevated circulating luteinizing hormone level Aplasia of the uterus Menstrual irregularities Patellar aplasia Labial hypoplasia Incomplete male pseudohermaphroditism Sparse pubic hair Sparse axillary hair Male pseudohermaphroditism Shawl scrotum Abnormality of the ureter Prominent occiput Diabetes insipidus Bifid scrotum Gynecomastia Renal dysplasia Abnormality of the genital system Primary amenorrhea Ambiguous genitalia Renal agenesis Penoscrotal transposition Scrotal hypospadias Clinodactyly of the 5th toe Abnormal palate morphology First degree atrioventricular block Delayed eruption of permanent teeth Periodic paralysis Abnormal T-wave Abnormal atrioventricular conduction Torsade de pointes T-wave inversion Left bundle branch block Ventricular extrasystoles Prolonged QT interval Right bundle branch block Myotonia Ventricular arrhythmia Reduced tendon reflexes Ventricular tachycardia Depressivity Scapular winging Cardiac arrest Hypoplasia of dental enamel Palpitations Specific learning disability Febrile seizures Syncope Sudden cardiac death Broad nasal tip Short palm Bulbous nose Limb muscle weakness Elevated serum creatine phosphokinase Arrhythmia Hypoproteinemia Abnormality of the pancreas Tetralogy of Fallot Schizophrenia Spinal canal stenosis Atonic seizures Thickened calvaria Broad palm Progressive spasticity Broad hallux Loss of consciousness Emphysema Abnormality of neuronal migration Large hands Aplasia/Hypoplasia of the cerebellum Prominent supraorbital ridges Coarse hair Sleep apnea Soft skin Aplasia/Hypoplasia of the corpus callosum Cutis laxa Narrow palate Coxa valga Abnormality of the hair Wide anterior fontanel Decreased body weight Abnormal form of the vertebral bodies Thick lower lip vermilion Psychosis Dental malocclusion Tetraplegia Everted lower lip vermilion Short distal phalanx of finger Severe sensorineural hearing impairment Acrocyanosis Coarse facial features Cataplexy Neuronal loss in central nervous system Dandy-Walker malformation Hypopigmentation of the skin Microtia Irritability Drumstick terminal phalanges Abnormality of the nasal alae Thick nasal septum Bifid sternum Uterine prolapse Lumbar kyphosis Retinoschisis Pseudoepiphyses of the metacarpals Stooped posture Hyperconvex fingernails Hypoplastic fingernail Abnormal tricuspid valve morphology Broad finger Narrow iliac wings Thick nasal alae Abnormal diaphysis morphology Rectal prolapse Hyperextensibility of the finger joints Advanced eruption of teeth Myelopathy Abnormal aortic valve morphology Delayed closure of the anterior fontanelle Craniofacial hyperostosis Abnormal mitral valve morphology Restrictive cardiomyopathy Hyperlordosis Congestive heart failure Lacrimation abnormality Midline skin dimples over anterior/posterior fontanelles Epistaxis Cyanosis Hip dysplasia Esotropia Lymphoma Abnormal bleeding Ascites Bruising susceptibility Falls Abnormality of the foot Hypermetropia Leukemia Low-set, posteriorly rotated ears Myopathy Hypoplasia of the primary teeth Lymphedema Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Anasarca Septate vagina Absent lacrimal punctum Increased VLDL cholesterol concentration Colonic diverticula Abnormality of the nares Uterus didelphys Frontal upsweep of hair Skin dimples Aplasia cutis congenita of scalp Abnormal vagina morphology Fine hair Aortic valve stenosis Skeletal muscle atrophy Prominent fingertip pads Peripheral neuropathy Muscle weakness Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Juvenile myelomonocytic leukemia Reduced factor XII activity Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Chylothorax Vasculitis Hypochromic microcytic anemia Abnormality of the spleen B-cell lymphoma Short attention span Hydrocele testis Abnormal eyebrow morphology Neurodevelopmental delay Decreased muscle mass Overfolded helix Abnormality of the thorax Bilateral ptosis Cholelithiasis Poor suck Bicuspid aortic valve Loose anagen hair
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Telecanthus, related diseases and genetic alterations Myopia and Dystonia, related diseases and genetic alterations Optic atrophy and Thrombocytopenia, related diseases and genetic alterations Ptosis and Long face, related diseases and genetic alterations
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
