Abnormal facial shape, and Sarcoma

Diseases related with Abnormal facial shape and Sarcoma

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


Top matches:

Low match JUVENILE MYELOMONOCYTIC LEUKEMIA


Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (OMIM ) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic LeukemiaIn up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (OMIM ), KRAS (OMIM ), and NRAS (OMIM ) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26 ) have also been found in patients with JMML.About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1 ) due to germline mutations in the NF1 gene (OMIM ). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL ) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic LeukemiaSomatic mutations in the CBL, ASXL1 (OMIM ), TET2 (OMIM ), and SF3B1 (OMIM ) genes have been found in patients with CMML.

JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as juvenile chronic myelomonocytic leukemia|jmml|leukemia, juvenile myelomonocytic

Related symptoms:

  • Generalized hypotonia
  • Abnormal facial shape
  • Anemia
  • Anteverted nares
  • Splenomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JUVENILE MYELOMONOCYTIC LEUKEMIA

Low match LARGE CONGENITAL MELANOCYTIC NEVUS


A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

Low match EXOSTOSES, MULTIPLE, TYPE I


Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent (Peterson, 1989).Two conditions in which multiple exostoses occur are metachondromatosis (OMIM ) and the Langer-Giedion syndrome (LGS ); the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP ), occipital horn syndrome (OMIM ), and the adult stage of hereditary hypophosphatemia (see {307800}); these exostoses are located at sites of tendon and muscle attachment. A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent (Silverman, 1985).

EXOSTOSES, MULTIPLE, TYPE I Is also known as multiple cartilaginous exostoses|ext1|multiple osteochondromas|diaphyseal aclasis|ext|osteochondromatosis

Related symptoms:

  • Short stature
  • Neoplasm
  • Depressivity
  • Abnormality of the foot
  • Genu valgum


SOURCES: OMIM MENDELIAN

More info about EXOSTOSES, MULTIPLE, TYPE I

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Other less relevant matches:

Low match COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY


Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Low match GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME


Gingival fibromatosis - hypertrichosis syndrome is a rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.

GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME Is also known as chromosome 17q24.2-q24.3 deletion syndrome|chromosome 17q24.2-q24.3 duplication syndrome|microdeletion 17q24.2-q24.3 syndrome|congenital generalized hypertrichosis terminalis|hirsutism-congenital gingival hyperplasia syndrome|microduplication 17q24.2-q24.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GINGIVAL FIBROMATOSIS-HYPERTRICHOSIS SYNDROME

Low match GASTROINTESTINAL STROMAL TUMOR


Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

GASTROINTESTINAL STROMAL TUMOR Is also known as gastrointestinal stromal sarcoma|gist

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GASTROINTESTINAL STROMAL TUMOR

Low match JUVENILE HYALINE FIBROMATOSIS


Juvenile hyaline fibromatosis (JHF) is a rare bone dysplasia, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures, and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. JHF is a mild form of infantile systemic hyalinosis (see this term).

JUVENILE HYALINE FIBROMATOSIS Is also known as puretic syndrome|murray-puretic-drescher syndrome|hyalinosis, systemic

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Pain
  • Flexion contracture
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HYALINE FIBROMATOSIS

Low match OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME


This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Strabismus
  • Abnormal facial shape
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about OVERGROWTH-MACROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Low match LEGIUS SYNDROME


Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple café-au-lait macules with or without axillary or inguinal freckling.

LEGIUS SYNDROME Is also known as nfls|neurofibromatosis type 1-like syndrome|nf1-like syndrome|neurofibromatosis 1-like syndrome

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Neoplasm
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LEGIUS SYNDROME

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

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Neurofibromas Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Coarse facial features Uncommon - Between 30% and 50% cases
Overgrowth Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Anemia Seizures

Rare Symptoms - Less than 30% cases


Rhabdomyosarcoma Recurrent infections Osteosarcoma Hypermelanotic macule Deep philtrum Generalized hirsutism Diarrhea Generalized hypotonia Hearing impairment Ataxia Epicanthus Broad nasal tip Gingival fibromatosis Pain Abnormality of the face Autistic behavior Large for gestational age Abnormality of the sternum Subcutaneous nodule Gingival overgrowth Abnormality of skin pigmentation Papule Splenomegaly Long philtrum Hypertelorism Broad forehead Myelodysplasia Failure to thrive Chronic diarrhea Aplasia/Hypoplasia of the skin Abnormality of the hair Thickened skin Skin ulcer Leukemia Cardiac arrest Elbow flexion contracture Osteolysis Joint stiffness Growth abnormality Abnormality of the gastrointestinal tract Abnormality of the skull Severe failure to thrive Osteoporosis Abnormal diaphysis morphology Intractable diarrhea Progressive flexion contractures Muscle weakness Cleft palate Cryptorchidism Delayed speech and language development Hepatomegaly Ventricular septal defect Osteopenia Flexion contracture Respiratory distress Schwannoma Skin rash Nausea and vomiting Abdominal distention Gastrointestinal hemorrhage Hyperpigmentation of the skin Eosinophilia Urticaria Intestinal obstruction Large hands Irregular hyperpigmentation Lipoma Paraganglioma Gastrointestinal stroma tumor Skeletal muscle atrophy Leiomyosarcoma Soft tissue sarcoma Mastocytosis Neoplasm of the small intestine Neoplasm of the rectum Esophageal neoplasm Neoplasm of the colon Neoplasm of the stomach Gastrointestinal obstruction Neoplasm of the gastrointestinal tract Giant hypertrophic gastritis Abnormal heart morphology Clinodactyly Umbilical hernia Inguinal hernia Short neck Accelerated skeletal maturation Optic nerve hypoplasia Anteverted nares Speech apraxia Unilateral cryptorchidism Abnormal pulmonary valve morphology Cranial asymmetry Aplasia/Hypoplasia of the optic nerve Micrognathia Ptosis High palate Hyperactivity Thick lower lip vermilion Low-set, posteriorly rotated ears Attention deficit hyperactivity disorder High, narrow palate Triangular face Specific learning disability Low posterior hairline Cafe-au-lait spot Multiple lipomas Freckling Multiple cafe-au-lait spots Neoplasm of the lung Lisch nodules Tall stature Pulmonic stenosis Micropenis Enlarged kidney Polyhydramnios Pallor Hypoglycemia Abnormality of the kidney Narrow mouth Facial asymmetry Macroglossia Premature birth Omphalocele Abnormality of the outer ear Nephroblastoma Abnormality of the ureter Neonatal hypoglycemia Pectus carinatum Nevus flammeus Diastasis recti Hemihypertrophy Visceromegaly Abdominal wall defect Anterior creases of earlobe Embryonal neoplasm Auricular pit Strabismus Intellectual disability, mild Abnormality of cardiovascular system morphology Thin upper lip vermilion Abnormality of the liver Vomiting Weight loss Enchondroma Hemangioma Hypophosphatemia Short finger Pathologic fracture Exostoses Madelung deformity Chondrosarcoma Multiple exostoses Cervical myelopathy Osteochondroma Pelvic bone exostoses Rib exostoses Short metacarpal Scapular exostoses Peripheral nerve compression Protuberances at ends of long bones Madelung-like forearm deformities Growth delay Intrauterine growth retardation Blindness Immunodeficiency Chronic myelomonocytic leukemia Glaucoma Respiratory failure Hypothyroidism Coxa vara Flat face Respiratory tract infection Narrow nasal bridge Pruritus Full cheeks Nevus Round face Open mouth Neoplasm of the skin Hypopigmented skin patches Melanoma Prominent forehead Melanocytic nevus Short nose Calvarial skull defect Genu valgum Periorbital fullness Hydrocephalus Thick hair Narrow nasal ridge Cutaneous melanoma Epidermal nevus Prominence of the premaxilla Congenital giant melanocytic nevus Nevus spillus Short stature Depressivity Abnormality of the foot Postnatal growth retardation Dry skin Abdominal pain Widely spaced teeth Synophrys Bulbous nose Thick eyebrow Hirsutism Thick vermilion border Delayed eruption of teeth Facial hypotonia Hypertrichosis Depressed nasal ridge Acute myeloid leukemia Low anterior hairline Relative macrocephaly EEG abnormality Peritonitis Myeloid leukemia Wide nasal base Thick nasal alae Generalized hypertrichosis Thoracic kyphoscoliosis Congenital, generalized hypertrichosis Fever Fatigue Dysphagia Everted lower lip vermilion Constipation Wide mouth Acute monocytic leukemia Ichthyosis Atopic dermatitis Lymphadenopathy Hemolytic anemia Neutropenia Eczema Inflammatory abnormality of the skin Abnormal lung morphology Bronchiectasis Lymphopenia Abnormal intestine morphology Recurrent skin infections Erythroderma Autoimmune hemolytic anemia Severe intrauterine growth retardation Kyphoscoliosis Protein-losing enteropathy Folliculitis Erythroid dysplasia Intellectual disability Acute myelomonocytic leukemia Juvenile myelomonocytic leukemia Cognitive impairment Monocytosis Refractory anemia Myeloproliferative disorder Abnormality of the dentition Macrotia Axillary freckling



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