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 TRANSPOSITION

Medium 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


SOURCES: ORPHANET MENDELIAN

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

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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 SYNDROME

Medium 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 LEUKEMIA

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 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 SYNDROME

Medium 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


SOURCES: OMIM MESH MENDELIAN

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. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

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


SOURCES: OMIM MENDELIAN

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). Genetic Heterogeneity of Noonan Syndrome-Like Disorder with Loose Anagen HairNSLH2 (OMIM ) is caused by mutation in the PPP1CB gene (OMIM ) on chromosome 2p23.

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


SOURCES: OMIM MENDELIAN

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
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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 Arthralgia, related diseases and genetic alterations Myopia and Dystonia, related diseases and genetic alterations Optic atrophy and Dystonia, related diseases and genetic alterations Ptosis and Joint hypermobility, related diseases and genetic alterations

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