High palate, and Thrombocytopenia

Diseases related with High palate and Thrombocytopenia

In the following list you will find some of the most common rare diseases related to High palate and Thrombocytopenia that can help you solving undiagnosed cases.


Top matches:

Medium match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF


cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Medium match SHWACHMAN-DIAMOND SYNDROME 2; SDS2


Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

Medium match TMEM165-CDG


TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).

TMEM165-CDG Is also known as congenital disorder of glycosylation type 2k|cdg iik|cdg2k|congenital disorder of glycosylation type iik|cdg-iik|cdgiik|cdg syndrome type iik|carbohydrate deficient glycoprotein syndrome type iik

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about TMEM165-CDG

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Other less relevant matches:

Medium match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Medium match 16Q24.3 MICRODELETION SYNDROME


16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

16Q24.3 MICRODELETION SYNDROME Is also known as monosomy 16q24.3|del(16)(q24.3)

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 16Q24.3 MICRODELETION SYNDROME

Medium match WOODHOUSE-SAKATI SYNDROME


Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Medium match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Medium match NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

Medium match LATHOSTEROLOSIS


Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

Medium match DIAMOND-BLACKFAN ANEMIA 1; DBA1


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Top 5 symptoms//phenotypes associated to High palate and Thrombocytopenia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with High palate and Thrombocytopenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Anemia

Uncommon Symptoms - Between 30% and 50% cases


Seizures Micrognathia Hepatosplenomegaly Hearing impairment Hepatomegaly Downslanted palpebral fissures Generalized hypotonia Long philtrum Low-set ears Elevated hepatic transaminase Hypertelorism Neutropenia Short stature Depressed nasal ridge Diarrhea Splenomegaly Anteverted nares Visual impairment High forehead Strabismus Abnormal facial shape Delayed speech and language development Ptosis Skin rash Feeding difficulties

Rare Symptoms - Less than 30% cases


Cleft palate Ventriculomegaly Hyperreflexia Recurrent infections Cataract Recurrent respiratory infections Nystagmus Asthma Postnatal microcephaly Triangular face Intellectual disability, severe Hypertension Wide nasal bridge Osteoporosis Midface retrusion Malar flattening Atrial septal defect Erythroid hypoplasia Intrauterine growth retardation Joint laxity Short nose Protruding ear Petechiae Mitral regurgitation Kyphosis Ventricular septal defect Frontal bossing Biparietal narrowing Increased mean corpuscular volume Scoliosis Sensorineural hearing impairment Purpura Micropenis Opacification of the corneal stroma Sloping forehead Intellectual disability, mild Abnormality of metabolism/homeostasis Dehydration Cerebral calcification Vomiting Abnormality of movement Abnormality of the liver Cryptorchidism Sparse scalp hair Fever Muscular hypotonia Rhizomelia Lethargy Epicanthus Abnormal heart morphology Metaphyseal dysplasia Myopia Psychosis Pancytopenia Macrocytic anemia Muscle weakness Syndactyly Bronchiectasis Polydactyly Leukopenia Plagiocephaly Recurrent bacterial infections Lymphopenia Broad thumb Conductive hearing impairment Tented upper lip vermilion Pulmonary arterial hypertension Toe syndactyly Talipes Renal agenesis Sepsis Tapered finger Cutis laxa Failure to thrive in infancy Talipes equinovarus Myoclonus Ataxia Cor triatriatum Neonatal sepsis Intermittent thrombocytopenia Monocytosis Cerebral atrophy Congenital neutropenia Giant platelets Unilateral renal agenesis Hypoplasia of the thymus Prominent superficial veins Varicose veins Premature loss of teeth Pulmonic stenosis Abnormality of lipid metabolism Iron deficiency anemia Long fingers Single transverse palmar crease Patent ductus arteriosus Pectus carinatum Bilateral single transverse palmar creases Increased antibody level in blood Osteomyelitis Psoriasiform dermatitis Systemic lupus erythematosus Reduced bone mineral density Abnormality of the fingernails Generalized hirsutism Recurrent pneumonia Low anterior hairline Abnormality of the hip bone Skin ulcer Lymphedema Abnormality of retinal pigmentation Abnormal lung morphology Thin skin Inflammatory abnormality of the skin Cutaneous photosensitivity Low posterior hairline Hepatitis Elevated erythrocyte sedimentation rate Aplasia/Hypoplasia of the skin Hydronephrosis Recurrent cystitis Pneumonia Hepatic failure Clinodactyly Hernia Respiratory distress Respiratory insufficiency Acidosis Thin upper lip vermilion Diffuse telangiectasia Abnormality of the immune system Crusting erythematous dermatitis Facial hirsutism Poliosis Abnormality of the middle ear White forelock Concave nasal ridge Chronic lung disease Hypoplasia of the zygomatic bone Prolonged neonatal jaundice Thin vermilion border Downturned corners of mouth Bulbous nose Hydrops fetalis Congenital glaucoma Delayed cranial suture closure Triphalangeal thumb Myelodysplasia Abnormality of the hand Hypoplasia of the radius Abnormal dermatoglyphics Bone marrow hypocellularity Short thumb Vertebral fusion Coarctation of aorta Webbed neck Premature birth Nausea Cleft upper lip Nausea and vomiting Narrow chest Leukemia Abnormal cardiac septum morphology Colon cancer Absent thumb Cleft lip Congenital hypoplastic anemia Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Hypoplastic anemia Persistence of hemoglobin F Branchial cyst Partial duplication of thumb phalanx Everted upper lip vermilion Parietal foramina Myeloid leukemia Unilateral cleft lip Reticulocytopenia Anemia of inadequate production Aplastic anemia 11 pairs of ribs Osteosarcoma Hypoplastic ilia Thrombocytosis Acute myeloid leukemia Pallor Retrognathia Postaxial polydactyly Hyperbilirubinemia Meningocele Postaxial foot polydactyly Prominent metopic ridge Pathologic fracture Bilateral talipes equinovarus Portal hypertension Elevated alkaline phosphatase Arnold-Chiari malformation Horseshoe kidney Intrahepatic cholestasis Gingival overgrowth Cholestasis Hypoplasia of penis Narrow forehead Postaxial hand polydactyly Specific learning disability Full cheeks Microcornea Arthritis Myelomeningocele Thick upper lip vermilion Glaucoma Severe generalized osteoporosis Congestive heart failure Edema Short neck Fatigue Flexion contracture Abnormality of the thoracic spine Lumbosacral meningocele Bilobate gallbladder Foam cells with lamellar inclusion bodies Schistocytosis Acanthocytosis Abnormality of cholesterol metabolism Abnormal platelet morphology Cerebellar cortical atrophy Anisopoikilocytosis Neural tube defect Increased mean platelet volume Butterfly vertebrae Ambiguous genitalia, male Generalized osteoporosis Convex nasal ridge Genu valgum Palmoplantar keratoderma Polymicrogyria Pachygyria Tetraparesis Status epilepticus Intellectual disability, profound Cystathioninemia Neuronal loss in central nervous system Gliosis Tetraplegia Constipation Cerebral visual impairment Congenital cataract Generalized tonic-clonic seizures Corneal opacity Respiratory tract infection Hypertrophic cardiomyopathy Muscular hypotonia of the trunk Jaundice High myopia Decreased liver function Cystathioninuria Cerebellar hypoplasia Methylmalonic acidemia Intellectual disability, moderate Stomatitis Autism Upslanted palpebral fissure Methylmalonic aciduria Hypoplasia of the corpus callosum Homocystinuria Dysphagia Glossitis Microretrognathia Hyperhomocystinemia Decreased methylcobalamin Megaloblastic bone marrow Congenital microcephaly Increased CSF protein Decreased adenosylcobalamin Lissencephaly Spastic tetraparesis Decreased methionine synthase activity Cerebral cortical atrophy Microphthalmia Autistic behavior Prolonged prothrombin time Hoarse voice Exocrine pancreatic insufficiency Severe failure to thrive Waddling gait Growth hormone deficiency Abnormality of the cerebral white matter Mild global developmental delay Prolonged partial thromboplastin time Skeletal dysplasia Sacral dimple Kyphoscoliosis Normocytic anemia Posteriorly rotated ears Severe short stature Elevated serum creatine phosphokinase Subglottic stenosis Laryngeal cleft Hyperechogenic pancreas Abnormality of the skeletal system Shock Epiphyseal dysplasia Renal insufficiency Mild short stature Hypertonia Severe muscular hypotonia Cardiomyopathy Genu varum Laryngomalacia Metaphyseal widening Metaphyseal irregularity Spasticity Neurodevelopmental delay Protruding tongue Steatorrhea Unexplained fevers Diaphyseal dysplasia Anterior pituitary hypoplasia Toenail dysplasia Beaking of vertebral bodies Premature skin wrinkling Broad neck Amelogenesis imperfecta Juvenile rheumatoid arthritis Wide mouth Hirsutism Aplasia/Hypoplasia of the eyebrow Abnormal T-wave Decreased serum estradiol Decreased serum testosterone level Anodontia Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Flat occiput Increased thyroid-stimulating hormone level Sparse eyebrow Premature ovarian insufficiency Hyperlipidemia Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Hallucinations Choreoathetosis Primary amenorrhea Myocardial infarction Abnormal spermatogenesis Streak ovary Abnormality of extrapyramidal motor function Hyperkeratosis Dry skin Arachnodactyly Macrocephaly Carious teeth Pruritus Papule Erythema Proptosis Prominent forehead Decreased serum insulin-like growth factor 1 Feeding difficulties in infancy Obesity Developmental regression Microtia Small for gestational age Depressed nasal bridge Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Fine hair Bilateral sensorineural hearing impairment Dilated cardiomyopathy Chronic otitis media Cognitive impairment Periventricular gray matter heterotopia Single median maxillary incisor Colpocephaly Incoordination Abnormal hair pattern Rheumatoid arthritis Proximal placement of thumb Optic nerve hypoplasia Dysarthria Pointed chin Preauricular skin tag Hip dysplasia Megaloblastic anemia Highly arched eyebrow Thick vermilion border Long face Astigmatism Smooth philtrum Peripheral neuropathy Gait disturbance Aciduria Arthrogryposis multiplex congenita Amenorrhea Decreased testicular size Dental malocclusion Prominent nose Polyneuropathy Sensory neuropathy Delayed puberty Hypotrichosis Prominent nasal bridge Dystonia Sparse hair Camptodactyly Mental deterioration Hypothyroidism Diabetes mellitus Hypogonadism Alopecia Babinski sign Abnormality of the skin Hypoplastic sacral vertebrae



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