Abnormal facial shape, and Lymphoma

Diseases related with Abnormal facial shape and Lymphoma

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Lymphoma that can help you solving undiagnosed cases.


Top matches:

Low match SÉZARY SYNDROME


Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY SYNDROME

Low match LIG4 SYNDROME


LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

Low match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

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Other less relevant matches:

Low match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT


Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

Low match RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Low match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Low match MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR


Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

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 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 WEAVER SYNDROME; WVS


Weaver syndrome comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (OMIM ), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010).The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity.Sotos syndrome (OMIM ), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (OMIM ) on chromosome 5q35.

WEAVER SYNDROME; WVS Is also known as weaver-smith syndrome|wss

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about WEAVER SYNDROME; WVS

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Lymphoma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Lymphoma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Leukemia Strabismus Generalized hypotonia Mandibular prognathia Seizures Erythema Short stature Recurrent infections Abnormality of the skeletal system Cryptorchidism Hearing impairment Growth delay Scoliosis Failure to thrive Neoplasm Upslanted palpebral fissure Skin rash Pneumonia Severe short stature Hypertelorism Thick lower lip vermilion Prominent nose Prominent forehead Type II diabetes mellitus Hypoplasia of the corpus callosum Epicanthus Delayed speech and language development Postnatal growth retardation Malar flattening Protruding ear Anemia High palate Hypertonia Muscular hypotonia Long philtrum Deeply set eye Depressed nasal bridge Delayed skeletal maturation Specific learning disability Clinodactyly

Rare Symptoms - Less than 30% cases


Downslanted palpebral fissures Abnormality of the dentition Constipation Intellectual disability, mild Nystagmus Cellulitis Acute myeloid leukemia Chromosome breakage Intrauterine growth retardation Talipes equinovarus Pes cavus Intellectual disability, severe Atopic dermatitis Recurrent skin infections Burkitt lymphoma Macrotia Bronchiectasis Inflammatory abnormality of the skin Anteverted nares Wide nose Myopia Visual loss Hypertrichosis Cafe-au-lait spot Hypopigmented skin patches High pitched voice Radial deviation of finger Hodgkin lymphoma Accelerated skeletal maturation Pain Cataract Blindness Glaucoma Coarse facial features Diabetes mellitus Finger clinodactyly Squamous cell carcinoma Thin upper lip vermilion Wide intermamillary distance Skin ulcer Hyperhidrosis Sinusitis Otitis media Overlapping toe Spasticity Eczema Small hand Asthma Gangrene Telangiectasia Cutaneous photosensitivity Broad nasal tip Full cheeks Thin vermilion border Overgrowth Abnormality of the nervous system Clinodactyly of the 5th finger Motor delay T-cell lymphoma Lymphedema Pointed chin Sleep disturbance Thickened skin Abnormality of the face Lymphadenopathy Dry skin Patent foramen ovale Pruritus Weight loss Flat occiput Agitation Edema Hepatomegaly Myelodysplasia Abnormality of the pinna Retrognathia Combined immunodeficiency Gastroesophageal reflux Sensorineural hearing impairment Dysarthria Large beaked nose Neonatal hypotonia Astigmatism Ataxia Anxiety Cognitive impairment Abnormality of chromosome stability Recurrent respiratory infections Telangiectasia of the skin Acute leukemia Thick vermilion border Severe combined immunodeficiency Aggressive behavior Rieger anomaly Inability to walk Panniculitis Erysipelas Short distal phalanx of finger Small for gestational age Synophrys Retinal thinning Muscular hypotonia of the trunk Prominent scalp veins Feeding difficulties Hypoplastic facial bones Retinal fold Apnea Intellectual disability, moderate Pes planus Autism Gait ataxia Micropenis Encephalopathy Smooth philtrum Absent speech Short neck Fatigue Congenital microcephaly Prominent nasal tip Increased serum insulin-like growth factor 1 Abnormal nasolacrimal system morphology Broad finger Small face Esodeviation Obesity Sandal gap Ventricular septal defect Decreased body weight Sparse scalp hair Blue sclerae Epidermal acanthosis Pectus excavatum Pterygium Webbed neck Highly arched eyebrow Triangular face Delayed eruption of teeth Narrow mouth Short foot Acanthosis nigricans Low-set ears Exudative vitreoretinopathy Melanonychia Perimembranous ventricular septal defect Chorioretinal dysplasia Abnormality of the rib cage Myopic astigmatism Maternal diabetes Everted lower lip vermilion Severe failure to thrive Short palm Severe intrauterine growth retardation Multiple cafe-au-lait spots Reduced subcutaneous adipose tissue Truncal obesity Delayed cranial suture closure Chorioretinal lacunae Lipodystrophy Aphasia Autistic behavior Joint contracture of the hand Absent septum pellucidum Limited elbow extension Bilateral talipes equinovarus Large for gestational age Metatarsus adductus Large hands Back pain Slurred speech Cutis laxa Coxa valga Short ribs Hoarse voice Tall stature Inverted nipples Broad thumb Pachygyria Fine hair Amenorrhea Nail dysplasia Round face Talipes Platyspondyly Broad forehead Sparse hair Camptodactyly Joint laxity Secondary amenorrhea Acute lymphoblastic leukemia Inguinal hernia Teratoma Flared humeral metaphysis Abnormally low-pitched voice Limited knee extension Flared femoral metaphysis Lumbar kyphosis Sacrococcygeal teratoma Deep-set nails Horizontal eyebrow Vertebral wedging Short fourth metatarsal Prominent fingertip pads Galactorrhea Thin nail Prolactin excess Thoracolumbar kyphosis Calcaneovalgus deformity Poor fine motor coordination Dimple chin Broad philtrum Dilation of lateral ventricles Broad face Large earlobe Hydrocele testis Hypoplastic iliac wing Diastasis recti Down-sloping shoulders Umbilical hernia Hernia Wide mouth Aganglionic megacolon Short metatarsal Incoordination Coarse hair Mutism Sleep apnea Aplasia/Hypoplasia of the corpus callosum Widely spaced teeth Abnormal palate morphology Intellectual disability, progressive Abnormal autonomic nervous system physiology Truncal ataxia Postnatal microcephaly Open mouth Clubbing Narrow forehead Cyanosis Convex nasal ridge Abdominal distention Hypopigmentation of the skin Single transverse palmar crease Tapered finger Thick eyebrow Severe global developmental delay Neurological speech impairment Prominent nasal bridge Short philtrum Self-injurious behavior Cupped ear Kyphosis Pes valgus Behavioral abnormality Macrocephaly Flexion contracture Overhanging nasal tip Triangular nasal tip Broad fingertip Intermittent hyperventilation Narrow foot Failure of eruption of permanent teeth Small cerebral cortex Square face Happy demeanor Abnormal pattern of respiration Supernumerary nipple Thickened helices Breathing dysregulation Abnormality of the helix Clubbing of fingers Echolalia Misalignment of teeth Esophagitis Acrocyanosis Hiatus hernia Hyperventilation Dysphasia Leukonychia Chylothorax Spotty hypopigmentation Retinal dysplasia Eosinophilia Recurrent sinopulmonary infections Verrucae Hemihypertrophy Chronic mucocutaneous candidiasis Recurrent bronchitis Recurrent sinusitis Bronchitis Chronic otitis media Urticaria Recurrent bacterial infections Red hair Hemivertebrae Recurrent fractures Joint hypermobility Facial asymmetry Cough Craniosynostosis Osteopenia Osteoporosis Dysphagia Frontal bossing Increased IgE level Decrease in T cell count Autoimmune neutropenia Anal canal squamous carcinoma Carcinoma Proptosis Headache Vomiting Hydrocephalus Visual impairment Cleft palate Impaired neutrophil chemotaxis Squamous cell carcinoma of the vulva Lung abscess Persistence of primary teeth Opportunistic infection Recurrent candida infections Recurrent Staphylococcus aureus infections Severe viral infections Onychomycosis Recurrent bacterial skin infections Eczematoid dermatitis Recurrent fungal infections Fractures of the long bones B lymphocytopenia Cortical myoclonus Vasculitis in the skin Postural instability Ectropion Brachycephaly Thrombocytopenia Cutaneous T-cell lymphoma Abnormal immunoglobulin level Abnormal lymphocyte morphology Lichenification Abnormality of the pleura Irregular hyperpigmentation Erythroderma Neoplasm of the skin Telecanthus Palmoplantar keratoderma Hypotrichosis Nail dystrophy Hepatosplenomegaly Alopecia Splenomegaly Tremor Skeletal muscle atrophy Fever Peripheral neuropathy Hypothyroidism Malabsorption Membranoproliferative glomerulonephritis Respiratory tract infection Allergic rhinitis Glomerulonephritis Leukopenia Narrow palpebral fissure Vasculitis Lymphopenia Sensory impairment Neutropenia Hemolytic anemia Conductive hearing impairment Hypoplasia of penis Myoclonus Hyporeflexia Brachydactyly Bird-like facies Abnormality of bone marrow cell morphology Biparietal narrowing Leukocytosis Psoriasiform dermatitis Low anterior hairline Pancytopenia Abnormality of skin pigmentation Anorexia Abnormal toenail morphology Agenesis of maxillary lateral incisor Retinopathy Rigidity Reduced visual acuity Hyperactivity Microphthalmia Atrial septal defect Optic atrophy Ptosis Facial telangiectasia in butterfly midface distribution Neoplasm of the gastrointestinal tract Corneal opacity Spotty hyperpigmentation Female infertility Decreased fertility in females IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Hypoplastic pelvis Hypoplasia of the zygomatic bone IgG deficiency Attention deficit hyperactivity disorder Hypermetropia Myeloid leukemia Optic nerve hypoplasia Vitreoretinopathy Abnormal eyelash morphology Underdeveloped supraorbital ridges Chorioretinal atrophy Cortical gyral simplification Anophthalmia Scaling skin Bilateral ptosis Deep philtrum Venous thrombosis Retinal dystrophy Muscle stiffness Abnormality of retinal pigmentation Amblyopia Subcutaneous nodule Status epilepticus Bilateral sensorineural hearing impairment Sloping forehead Pigmentary retinopathy Microcornea Retinal detachment IgA deficiency Pulmonary fibrosis Increased intracranial pressure Ocular pain Histiocytoma Vitritis Fibrosarcoma Glioblastoma multiforme Malar rash Leukocoria Soft tissue sarcoma Leiomyosarcoma Anisocoria Vitreous hemorrhage Sebaceous gland carcinoma Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Astrocytoma Acute monocytic leukemia Anemia of inadequate production Osteosarcoma Uveitis Neurofibromas Sarcoma Liposarcoma Neoplasm of the eye Hand polydactyly Polydactyly Reduced number of teeth Sacral dimple Azoospermia Narrow face Abnormality of the skin Decreased antibody level in blood Ichthyosis Infertility Dolichocephaly Finger syndactyly Syndactyly Hyphema Short nose Diarrhea Cardiomyopathy Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Pineal cyst Ewing sarcoma Dysharmonic bone age



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