Lymphoma, and Single transverse palmar crease

Diseases related with Lymphoma and Single transverse palmar crease

In the following list you will find some of the most common rare diseases related to Lymphoma and Single transverse palmar crease that can help you solving undiagnosed cases.


Top matches:

Medium match PITT-HOPKINS SYNDROME


Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS 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

Low match SECKEL SYNDROME 1; SCKL1


Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.

SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 1; SCKL1

Mendelian

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

Learn more

Other less relevant matches:

Low match DOWN SYNDROME


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Low match RUBINSTEIN-TAYBI SYNDROME 1; RSTS1


Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Low match JACOBSEN SYNDROME


Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Low 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 DYSKERATOSIS CONGENITA


Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

DYSKERATOSIS CONGENITA Is also known as dkc|dc|dyskeratosis congenita, scoggins type|zinsser-engman-cole syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSKERATOSIS CONGENITA

Low match GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE


Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE Is also known as igf-i resistance|resistance to igf-1|somatomedin, end-organ insensitivity to|somatomedin-c, resistance to

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

Low match AUTOSOMAL DOMINANT HYPER-IGE SYNDROME


Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

AUTOSOMAL DOMINANT HYPER-IGE SYNDROME Is also known as autosomal dominant hyperimmunoglobulin e syndrome|hyperimmunoglobulin e syndrome type 1|ad-hies|buckley syndrome|stat3 deficiency|job syndrome|hyperimmunoglobulin e-recurrent infection syndrome|autosomal dominant hies

Related symptoms:

  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Fever
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPER-IGE SYNDROME

Top 5 symptoms//phenotypes associated to Lymphoma and Single transverse palmar crease

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Lymphoma and Single transverse palmar crease. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Leukemia

Common Symptoms - More than 50% cases


Microcephaly

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the dentition

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment

Common Symptoms - More than 50% cases


Postnatal growth retardation

Uncommon Symptoms - Between 30% and 50% cases


Clinodactyly of the 5th finger Ventricular septal defect Pectus excavatum Thrombocytopenia Short neck Depressed nasal bridge Cataract Seizures Wide nasal bridge Downslanted palpebral fissures Epicanthus Abnormal facial shape Micrognathia Retrognathia Delayed skeletal maturation Intrauterine growth retardation High palate Abnormality of cardiovascular system morphology Cafe-au-lait spot Webbed neck Pulmonic stenosis Feeding difficulties in infancy Prominent forehead Long philtrum Atrial septal defect Frontal bossing Delayed speech and language development Narrow palate Ptosis Upslanted palpebral fissure Hypertelorism Anteverted nares Constipation Clinodactyly Feeding difficulties Abnormal heart morphology Gastroesophageal reflux Pes planus Deeply set eye Neoplasm Intellectual disability, moderate Inguinal hernia Immunodeficiency Posteriorly rotated ears Thin upper lip vermilion Recurrent fractures Splenomegaly Sandal gap Edema Coarctation of aorta Recurrent respiratory infections Polyhydramnios Osteopenia Optic atrophy Macrocephaly Hypertension Cognitive impairment Abnormal eyelash morphology Behavioral abnormality Sparse hair High forehead Hyperpigmentation of the skin Small for gestational age Hypospadias Hydrocephalus Short nose Anemia Malar flattening Recurrent infections Short attention span Low posterior hairline Joint laxity Narrow mouth Triangular face Highly arched eyebrow Bruising susceptibility Joint hypermobility Pancytopenia Hydronephrosis Low-set, posteriorly rotated ears Dental malocclusion Neurofibromas Abnormal palate morphology Prominent nose Myopia Abnormality of the pinna Autism Aganglionic megacolon Hypoplasia of the corpus callosum Motor delay Open mouth Wide intermamillary distance Neurological speech impairment Astigmatism Thick eyebrow Thick vermilion border Convex nasal ridge Ataxia

Rare Symptoms - Less than 30% cases


Pes cavus Polydactyly Hypothyroidism Umbilical hernia Encephalopathy Hypotrichosis Ventriculomegaly Atrioventricular canal defect Anal atresia Short palm Microdontia Type II diabetes mellitus Hydroureter Transposition of the great arteries Double outlet right ventricle Hypoplastic iliac wing Obesity Diabetes mellitus Coarse facial features Pachygyria Small hand Kyphosis Severe short stature Hyperactivity Microtia Skin vesicle Hip dislocation Synophrys Facial asymmetry Talipes Hypoplasia of dental enamel Brachydactyly Dental crowding Patent foramen ovale Myelodysplasia Dislocated radial head Severe intrauterine growth retardation Skin ulcer Acute monocytic leukemia Dystrophic fingernails Aggressive behavior Anxiety Abnormality of the testis Intellectual disability, severe Flexion contracture Alopecia Hernia Osteoporosis Telecanthus Craniosynostosis Abnormal cardiac septum morphology Skin rash Hyperkeratosis Dolichocephaly Hyperhidrosis Smooth philtrum Premature birth Pruritus Intestinal malrotation Hypertonia Growth hormone deficiency Eczema Hepatomegaly Bone marrow hypocellularity Ectropion Heart murmur Urethral stenosis Aplasia/Hypoplasia of the eyebrow Cerebral atrophy Congestive heart failure Dysphagia Talipes equinovarus Syndactyly Tapered finger Patent ductus arteriosus Agenesis of corpus callosum Proptosis EEG abnormality Abnormality of the kidney Respiratory tract infection Coloboma Iris coloboma Hypoplasia of the maxilla Nail dystrophy Otitis media Abnormality of the skeletal system Multiple cafe-au-lait spots Delayed cranial suture closure Truncal obesity Chronic otitis media Abnormality of refraction Nasolacrimal duct obstruction Decreased body weight Palmoplantar keratoderma Abnormality of skin pigmentation Cleft palate Postural instability Full cheeks Bilateral single transverse palmar creases Pleural effusion Narrow forehead Falls Aortic valve stenosis Abnormal eyebrow morphology Cyanosis Neurodevelopmental delay Specific learning disability Hypermetropia Bicuspid aortic valve Cubitus valgus Cardiomyopathy Deep philtrum Poor suck Cholelithiasis Failure to thrive in infancy Bilateral ptosis Thick lower lip vermilion Sleep disturbance Lymphedema Respiratory distress Sleep apnea Fine hair Mitral regurgitation Aplasia/Hypoplasia of the corpus callosum Hypopigmented skin patches Finger clinodactyly Macrotia Delayed eruption of teeth Abnormal bleeding Gait disturbance Prominent fingertip pads Thickened helices Pectus carinatum Abdominal distention Reduced subcutaneous adipose tissue Nevus Long face Thickened skin High, narrow palate High pitched voice Bulbous nose Inflammatory abnormality of the skin Retinal dystrophy Vesicoureteral reflux Hemiparesis Hepatic steatosis Myocardial infarction Abnormality of the cardiovascular system Progressive visual loss Cardiomegaly Neoplasm of the pancreas Cerebral visual impairment Sparse eyebrow Abnormal heart valve morphology Long palpebral fissure Pterygium Abnormality of the sternum Infantile spasms Malnutrition Open bite Large for gestational age Absent eyebrow Obsessive-compulsive behavior Lipodystrophy Melanocytic nevus Scaling skin Brittle hair Aspiration Redundant skin Hyperextensible skin Radial deviation of finger Relative macrocephaly Abnormality of vision Palmoplantar hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Hemangioma Cutis laxa Oculomotor apraxia Sparse eyelashes Abnormality of the nail Agitation Scarring Peripheral axonal neuropathy Clitoral hypoplasia Nystagmus Abnormality of the curvature of the vertebral column Megakaryocyte dysplasia Congenital thrombocytopenia Cellulitis Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Central hypothyroidism Dysarthria Gingivitis U-Shaped upper lip vermilion Atelectasis Long hallux Increased IgE level Abnormality of the head Broad columella Abnormal thrombocyte morphology Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Paronychia Broad hallux phalanx Mitral stenosis Osteomyelitis Blindness Ichthyosis Rieger anomaly Dry skin Genu valgum Abnormality of the cerebral white matter Severe failure to thrive Curly hair Maternal diabetes Small face Abnormality of the rib cage Perimembranous ventricular septal defect Erythema Esodeviation Irritability Broad finger Abnormality of the eye Prominent scalp veins Eosinophilia Hypertrophic cardiomyopathy Hypoplastic facial bones Burkitt lymphoma Increased serum insulin-like growth factor 1 Cerebral cortical atrophy Fever Dilatation Cough Depressivity Papule Joint hyperflexibility Abnormality of the face Abnormality of the hair Vomiting Biparietal narrowing Epidermal acanthosis Generalized hyperpigmentation Cirrhosis Abnormal intestine morphology Anorectal anomaly Abnormality of the fingernails Congenital bullous ichthyosiform erythroderma Lymphopenia Hepatic fibrosis Cerebral calcification Abnormal blistering of the skin Displacement of the external urethral meatus Nail dysplasia Hypodontia Hepatic failure Malabsorption Dermal atrophy Carious teeth Cerebellar hypoplasia Oral aversion Multiple plantar creases Eyelid fasciculation Palmar hyperkeratosis Multiple palmar creases Abnormality of the auditory canal Esophageal stenosis Inappropriate crying Cutaneous T-cell lymphoma Absent lacrimal punctum Neoplasm of the skin Reticular hyperpigmentation Muscular hypotonia of the trunk Telangiectasia of the skin Periodontitis White hair Oral leukoplakia Aplastic anemia Ridged nail Abnormality of female internal genitalia Blepharitis Cellular immunodeficiency Premature loss of teeth Testicular atrophy Abnormality of the pharynx Aseptic necrosis Aplasia/Hypoplasia of the skin Tracheoesophageal fistula Squamous cell carcinoma of the skin Abnormality of neutrophils Interstitial pneumonitis Aplastic/hypoplastic toenail Porokeratosis Macule Hypermelanotic macule Abnormality of coagulation Premature graying of hair Rough bone trabeculation Nail pits Pulmonary fibrosis Epiphora Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Submucous cleft hard palate Short foot Deep palmar crease Abnormal myocardium morphology Delayed CNS myelination Everted lower lip vermilion Abnormality of the optic nerve Abnormal hair pattern Thick upper lip vermilion Woolly hair Abnormality of the gastrointestinal tract Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Abnormal mitral valve morphology Enlarged kidney Broad nasal tip Taurodontia Blue sclerae Sparse scalp hair Arnold-Chiari type I malformation Alopecia of scalp Accelerated skeletal maturation Acanthosis nigricans Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Anal stenosis Gastrointestinal dysmotility Slow-growing hair Abnormal location of ears Abnormal tricuspid valve morphology Abnormality of the hairline Hyperkeratosis pilaris Duodenal atresia Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Thin vermilion border Patchy alopecia Short distal phalanx of finger Abnormality of the optic disc Subvalvular aortic stenosis Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Inability to walk Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Ectopic anus Misalignment of teeth Eyelid coloboma Cerebellar vermis hypoplasia Selective tooth agenesis 11 pairs of ribs Abnormal cortical gyration Abnormally large globe Chromosome breakage Cone-shaped epiphyses of the phalanges of the hand Proportionate short stature Acute myeloid leukemia Myeloid leukemia Clitoral hypertrophy Apnea Elbow flexion contracture Narrow face Protruding ear Small anterior fontanelle Sloping forehead Autistic behavior Wide mouth Blepharophimosis Hyperlordosis Short philtrum Prominent nasal bridge Severe global developmental delay Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Juvenile myelomonocytic leukemia Reduced factor XII activity Lumbar scoliosis Ivory epiphyses Reduced factor IX activity Macroglossia Polycythemia Neurofibrillary tangles Congenital hypothyroidism Impaired pain sensation Abnormality of immune system physiology Abnormality of blood and blood-forming tissues Prematurely aged appearance Broad palm Decreased fertility Alzheimer disease Breast carcinoma Renal hypoplasia/aplasia Depressed nasal ridge Neutropenia Abnormal finger flexion creases Downturned corners of mouth Postaxial polydactyly Flat face Developmental regression Conductive hearing impairment Pneumonia Brachycephaly Dementia Micropenis Gait ataxia Mandibular prognathia Hypoplasia of proximal fibula Large basal ganglia Hypoplasia of proximal radius Hypoplasia of olfactory tract Abnormality of the mediastinum Thrombocytosis Overhanging nasal tip Short metatarsal Self-injurious behavior Clubbing Cupped ear Overlapping toe Supernumerary nipple Aphasia Dysphasia Hodgkin lymphoma Hyperventilation Hiatus hernia Acrocyanosis Esophagitis Triangular nasal tip Incoordination Broad fingertip Intermittent hyperventilation Narrow foot Failure of eruption of permanent teeth Small cerebral cortex Square face Large beaked nose Happy demeanor Pes valgus Abnormal pattern of respiration Breathing dysregulation Abnormality of the helix Clubbing of fingers Myopathy Coarse hair Arteritis Torticollis Pulmonary lymphangiectasia Monocytosis Broad toe Chylothorax Hypochromic microcytic anemia Abnormality of the spleen B-cell lymphoma Hydrocele testis Facial hypotonia Decreased muscle mass Proximal placement of thumb Overfolded helix Abnormality of the thorax Vasculitis Mutism Hydrops fetalis Hypopigmentation of the skin Epistaxis Hip dysplasia Esotropia Ascites Abnormality of the foot Broad forehead Postnatal microcephaly Truncal ataxia Abnormal autonomic nervous system physiology Hepatosplenomegaly Intellectual disability, progressive Widely spaced teeth Protruding tongue Acute lymphoblastic leukemia Chronic constipation Radial deviation of thumb terminal phalanx Narrow chest Toe syndactyly Finger syndactyly Attention deficit hyperactivity disorder Camptodactyly Hypoglycemia Hypogonadism Microphthalmia Intellectual disability, mild Echolalia Spasticity Sensorineural hearing impairment Plantar crease between first and second toes Abnormal number of teeth Microcornea High axial triradius Papillary cystadenoma of the epididymis Enlarged tonsils Talon cusp Deviated nasal septum Premature thelarche Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Vascular ring Duplication of phalanx of hallux Dyscalculia Tachycardia Decreased antibody level in blood Keloids Hand polydactyly Retinal dysplasia Diastasis recti Missing ribs Bipolar affective disorder Wheezing Natal tooth Slender finger Partial agenesis of the corpus callosum Hypoplastic left heart Flat occiput Hammertoe Chorioretinal coloboma Trigonocephaly Pyloric stenosis Dehydration Schizophrenia Infantile muscular hypotonia Tachypnea Azoospermia Holoprosencephaly Multicystic kidney dysplasia Horseshoe kidney Spina bifida Leukodystrophy Short toe Sinusitis Short thumb Amblyopia Abnormal form of the vertebral bodies Chorioretinal dystrophy Duane anomaly Thickened nuchal skin fold Round ear Wide anterior fontanel Exotropia Stereotypy Long eyelashes Broad thumb Hirsutism Unsteady gait Glaucoma Arrhythmia Absent speech Hyperreflexia Acute megakaryocytic leukemia Left-to-right shunt Brushfield spots Spina bifida occulta Transient myeloproliferative syndrome Crackles Atlantoaxial instability Neutrophilia Abnormality of the fontanelles or cranial sutures Shallow acetabular fossae Duodenal stenosis Abnormality of the lymphatic system Myeloproliferative disorder Short middle phalanx of the 5th finger Complete atrioventricular canal defect Pulmonary edema Hypoxemia Senile plaques Low anterior hairline Recurrent upper respiratory tract infections Frontal upsweep of hair Flared iliac wings Bimanual synkinesia Short upper lip Parietal foramina Abnormality of the cervical spine Facial grimacing Tethered cord Phonophobia Broad distal phalanx of finger Rhabdomyosarcoma Abnormal cornea morphology Medulloblastoma Pheochromocytoma Avascular necrosis of the capital femoral epiphysis Dyslexia Laryngomalacia Meningioma Low hanging columella Capillary hemangioma Obstructive sleep apnea Self-mutilation Patellar dislocation Poor coordination Overweight Shawl scrotum Neuroblastoma Fatigue Congenital glaucoma Broad hallux Impulsivity Generalized abnormality of skin



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Meningitis, related diseases and genetic alterations Macrocephaly and Ischemic stroke, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more