Lymphoma, and Arachnodactyly

Diseases related with Lymphoma and Arachnodactyly

In the following list you will find some of the most common rare diseases related to Lymphoma and Arachnodactyly 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

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

Low match DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME


Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

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Other less relevant matches:

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

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 ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1


Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment (Greene et al., 2010).Citing the revised Ghent criteria for Marfan syndrome, Loeys et al. (2010) proposed the designation 'ectopia lentis syndrome' (ELS) for patients with ectopia lentis and a mutation in the FBN1 gene who lack aortic involvement, to highlight the systemic nature of the condition and to emphasize the need for assessment of features outside the ocular system (see DIAGNOSIS). Genetic Heterogeneity of Isolated Ectopia LentisAn autosomal recessive form of isolated ectopia lentis (ECTOL2 ) is caused by mutation in the ADAMTSL4 gene (OMIM ).

Related symptoms:

  • Visual impairment
  • Joint stiffness
  • Arachnodactyly
  • Ectopia lentis
  • Disproportionate tall stature


SOURCES: OMIM MENDELIAN

More info about ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT; ECTOL1

Low match SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3


Related symptoms:

  • Scoliosis
  • Camptodactyly
  • Arachnodactyly
  • Abnormal vertebral morphology
  • Vertebral segmentation defect


SOURCES: OMIM MENDELIAN

More info about SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE; SCDO3

Low match LETHAL OCCIPITAL ENCEPHALOCELE-SKELETAL DYSPLASIA SYNDROME


Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated.

Related symptoms:

  • Abnormality of the skeletal system
  • Brachycephaly
  • Craniosynostosis
  • Arachnodactyly
  • Encephalocele


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL OCCIPITAL ENCEPHALOCELE-SKELETAL DYSPLASIA SYNDROME

Low match CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME


Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterised by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth.

CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME Is also known as catshl syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CAMPTODACTYLY-TALL STATURE-SCOLIOSIS-HEARING LOSS SYNDROME

Low match STICKLER SYNDROME TYPE 3


Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

Top 5 symptoms//phenotypes associated to Lymphoma and Arachnodactyly

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Lymphoma and Arachnodactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Sensorineural hearing impairment Growth delay Seizures Clinodactyly Strabismus Tapered finger Myopia Cryptorchidism Leukemia Microcephaly Cataract Abnormality of the pinna Neurological speech impairment Intellectual disability, moderate Pectus excavatum Single transverse palmar crease Myeloid leukemia Camptodactyly Craniosynostosis Pancytopenia Recurrent respiratory infections Syndactyly Intrauterine growth retardation Epicanthus High palate Pes planus Postnatal growth retardation Upslanted palpebral fissure Anteverted nares Generalized hypotonia Failure to thrive Abnormal facial shape Muscular hypotonia Feeding difficulties Abnormality of the skeletal system Talipes equinovarus Short stature

Rare Symptoms - Less than 30% cases


Acute myeloid leukemia Intellectual disability, mild Retrognathia Hyperactivity Hypogonadism Osteoporosis Prominent forehead Immunodeficiency Recurrent infections Short nose Kyphosis Behavioral abnormality Osteopenia Abnormality of the dentition Congestive heart failure Edema Ventriculomegaly Thrombocytopenia Fever Ventricular septal defect Hypospadias Bruising susceptibility Neoplasm Weight loss Thin upper lip vermilion Talipes Pachygyria Acrocyanosis Facial asymmetry Erysipelas Clitoral hypoplasia Long philtrum Chromosome breakage Hip dislocation Small for gestational age Myelodysplasia Anemia Hypoglycemia Infantile muscular hypotonia Aortic valve stenosis Cleft palate Low-set ears Growth hormone deficiency Downslanted palpebral fissures Webbed neck Bone marrow hypocellularity Attention deficit hyperactivity disorder Slender finger Dolichocephaly Respiratory failure Clinodactyly of the 5th finger Small hand Specific learning disability Narrow forehead Prominent nose Full cheeks Hypopigmentation of the skin Abnormal palate morphology Sleep apnea Sleep disturbance Autism Convex nasal ridge Micropenis Pes cavus Ectopia lentis Constipation Apnea Thick eyebrow Hypoplasia of the corpus callosum Fatigue Wide nasal bridge Hypertelorism Intellectual disability, severe Motor delay Short neck Atrial septal defect Hydrocephalus Frontal bossing Optic atrophy Pectus carinatum Macrocephaly Brachydactyly Arthralgia Flexion contracture Joint hypermobility Narrow chest Ptosis Spasticity Smooth philtrum Retinopathy Cerebral atrophy Toe syndactyly High forehead Malar flattening Low-set, posteriorly rotated ears Coloboma Telecanthus Hydronephrosis Abnormal cardiac septum morphology Midface retrusion Skin rash Hypothyroidism Microphthalmia Agenesis of corpus callosum Abnormal heart morphology Patent ductus arteriosus Glaucoma Finger syndactyly Hernia Abnormality of cardiovascular system morphology Feeding difficulties in infancy Inguinal hernia Ivory epiphyses Hypoplasia of proximal fibula Sloping forehead Narrow palate Elbow flexion contracture Arthropathy Narrow face Dental crowding Hypoplasia of dental enamel Glossoptosis Cerebellar vermis hypoplasia Dental malocclusion Patent foramen ovale Triangular face Exostoses Pierre-Robin sequence Pulmonic stenosis Synophrys Microtia Blepharophimosis Abnormal vitreous humor morphology Hyperlordosis Sandal gap Clitoral hypertrophy Large basal ganglia Selective tooth agenesis Hypoplasia of proximal radius Abnormal finger flexion creases Retinal detachment Tachycardia Small anterior fontanelle Lumbar scoliosis Bifid uvula Mitral valve prolapse Acute monocytic leukemia Dislocated radial head 11 pairs of ribs Abnormal cortical gyration Osteoarthritis Spondyloepiphyseal dysplasia Long fingers Abnormally large globe Cone-shaped epiphyses of the phalanges of the hand Severe intrauterine growth retardation Proportionate short stature Anal atresia Visual impairment Iris coloboma Occipital encephalocele Mitral stenosis Ectopic anus Vertebral segmentation defect Duodenal atresia Eyelid coloboma Supernumerary vertebral ossification centers Brachycephaly Encephalocele Limited elbow extension Chronic constipation Disproportionate tall stature Retinal dysplasia Oligodactyly Calvarial skull defect Humeroradial synostosis Multiple skeletal anomalies Camptodactyly of finger Diastasis recti Missing ribs Double outlet right ventricle Abnormal vertebral morphology Broad hallux phalanx High myopia Giant platelets Megakaryocyte dysplasia Congenital thrombocytopenia Joint stiffness Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Macular hypoplasia Nuclear cataract Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Nasolacrimal duct obstruction Broad columella Abnormal thrombocyte morphology Labial hypoplasia Aplasia/Hypoplasia of the earlobes Bilateral sensorineural hearing impairment Interphalangeal joint contracture of finger Microcornea Abnormal form of the vertebral bodies Holoprosencephaly Multicystic kidney dysplasia Horseshoe kidney Spina bifida Leukodystrophy Short toe Sinusitis Short thumb Amblyopia Coarctation of aorta Tachypnea Eczema Dehydration Microdontia Otitis media Decreased antibody level in blood Abnormality of the curvature of the vertebral column Premature birth Broad femoral metaphyses Postural instability Azoospermia Schizophrenia Tall stature Partial agenesis of the corpus callosum Abnormal eyelash morphology Joint contracture of the hand Camptodactyly of toe Bipolar affective disorder Osteochondroma Wheezing Transposition of the great arteries Natal tooth Increased vertebral height Abnormality of lower limb joint Pyloric stenosis Atrioventricular canal defect Hypoplastic left heart Aplasia/Hypoplasia of the eyebrow Flat occiput Hammertoe Heart murmur Chorioretinal coloboma Ectropion Trigonocephaly Hand polydactyly Intestinal malrotation Hypopnea Posteriorly rotated ears Small cerebral cortex Cognitive impairment Pain Nystagmus Overhanging nasal tip Triangular nasal tip Broad fingertip Intermittent hyperventilation Narrow foot Failure of eruption of permanent teeth Square face Hypertension Large beaked nose Happy demeanor Pes valgus Abnormal pattern of respiration Thickened helices Breathing dysregulation Abnormality of the helix Clubbing of fingers Echolalia Delayed speech and language development Myopathy Esophagitis Hypermetropia Sepsis Short foot Downturned corners of mouth Short palm Polymicrogyria Infertility Genu valgum Delayed puberty Carious teeth Pruritus Vomiting Stroke Respiratory tract infection Abnormality of the nervous system Neonatal hypotonia Photophobia Narrow mouth Diabetes mellitus Hyporeflexia Obesity Dilatation Misalignment of teeth Hiatus hernia Esotropia Aggressive behavior Abdominal distention Thick vermilion border Astigmatism Severe global developmental delay Prominent nasal bridge Short philtrum Wide mouth Autistic behavior Protruding ear Anxiety Cyanosis Deeply set eye Coarse facial features Gastroesophageal reflux Mandibular prognathia Gait ataxia Pneumonia Encephalopathy Absent speech Ataxia Wide intermamillary distance Thick lower lip vermilion Hyperventilation Incoordination Hodgkin lymphoma Dysphasia Aphasia Supernumerary nipple Overlapping toe Cupped ear Clubbing Self-injurious behavior Short metatarsal Coarse hair Open mouth Hypopigmented skin patches Mutism Aplasia/Hypoplasia of the corpus callosum Widely spaced teeth Intellectual disability, progressive Finger clinodactyly Abnormal autonomic nervous system physiology Truncal ataxia Postnatal microcephaly Aganglionic megacolon Gastrointestinal hemorrhage Febrile seizures Severe short stature Narrow palm Pallor Visual loss Splenomegaly Cerebellar atrophy Respiratory insufficiency Hepatomegaly Acromicria Poor gross motor coordination Almond-shaped palpebral fissure Psychotic episodes Nausea and vomiting Hypoplastic labia minora Central adrenal insufficiency Temperature instability Triangular mouth Disseminated intravascular coagulation Frontal upsweep of hair Anteverted ears Poor fine motor coordination Abdominal obesity Scarring Vertigo Generalized hypopigmentation Cellulitis Delayed skeletal maturation Abnormal neutrophil count Macronodular cirrhosis Granulocytopenia Myeloproliferative disorder Abnormality of the optic nerve Verrucae Hypercoagulability Acute leukemia Prolonged bleeding time Lymphadenopathy Leukocytosis Chronic otitis media Intracranial hemorrhage Leukopenia Lymphedema Hypotelorism Migraine Hematuria Hemolytic anemia Cirrhosis Cor pulmonale Hypothermia Hip dysplasia Increased body weight Precocious puberty Failure to thrive in infancy Nasal speech Poor suck Scrotal hypoplasia Bicuspid aortic valve Narrow palpebral fissure Spontaneous abortion Hypogonadotrophic hypogonadism Bradycardia Radial deviation of finger Insulin resistance Clumsiness Primary amenorrhea Cutaneous photosensitivity Psychosis Type II diabetes mellitus Decreased fetal movement Oligohydramnios Abnormality of the cardiovascular system Amenorrhea Hyperinsulinemia Emotional lability Ocular albinism Striae distensae Hypoplasia of the fovea Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Hypoventilation Hypopigmentation of hair Pulmonary embolism Impaired pain sensation Large hands Narrow nasal bridge Polyphagia External genital hypoplasia Truncal obesity Decreased muscle mass Adrenal insufficiency Skeletal muscle hypertrophy Albinism Glucose intolerance Inflammation of the large intestine Abnormal metacarpal morphology



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 Joint hypermobility, related diseases and genetic alterations Wide nasal bridge and High myopia, related diseases and genetic alterations

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