Anemia, and Bifid uvula

Diseases related with Anemia and Bifid uvula

In the following list you will find some of the most common rare diseases related to Anemia and Bifid uvula that can help you solving undiagnosed cases.


Top matches:

Medium match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Medium match BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD


BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Medium match DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

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Other less relevant matches:

Medium match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN


Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Medium match BLACKFAN-DIAMOND ANEMIA


Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Medium match SYNDROMIC DIARRHEA


Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

Medium match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Low match BALLER-GEROLD SYNDROME


Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Top 5 symptoms//phenotypes associated to Anemia and Bifid uvula

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Cleft palate Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and Bifid uvula. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Renal dysplasia High palate Hypertelorism Cognitive impairment Ventricular septal defect Microcephaly Short neck Patent ductus arteriosus Growth delay Conductive hearing impairment Intrauterine growth retardation Abnormality of the pinna Epicanthus Narrow mouth Tetralogy of Fallot Thrombocytopenia Abnormal heart morphology Seizures Posteriorly rotated ears Hernia Downslanted palpebral fissures Abnormality of the kidney Cataract Strabismus Microtia Delayed speech and language development Scoliosis Hydronephrosis Broad forehead Abnormality of cardiovascular system morphology Behavioral abnormality Retrognathia Cleft lip Immunodeficiency Hydrocephalus Prominent forehead Hypoplasia of the corpus callosum Umbilical hernia Craniosynostosis Atrial septal defect Frontal bossing Depressed nasal bridge Recurrent infections Generalized hypotonia Low-set ears

Rare Symptoms - Less than 30% cases


Myelomeningocele Proptosis Arnold-Chiari malformation Schizophrenia Pancytopenia Bilateral conductive hearing impairment Cholelithiasis Rheumatoid arthritis Psoriasiform dermatitis Pulmonic stenosis Unilateral renal agenesis Acne Wide mouth Inflammation of the large intestine Renal cyst Abnormality of the hand Autoimmune hemolytic anemia Hepatic fibrosis Autoimmune thrombocytopenia Wide nasal bridge Hepatomegaly Depressed nasal ridge Posterior embryotoxon Bipolar affective disorder Vitiligo Hypoparathyroidism Meningocele Truncus arteriosus Short thumb Sensorineural hearing impairment Purpura Bicuspid aortic valve Nystagmus Underdeveloped nasal alae Vesicoureteral reflux Polymicrogyria Anal atresia Polydactyly Trigonocephaly Exotropia Perineal fistula Low-set, posteriorly rotated ears Nephropathy Fever Depressivity Obesity Inguinal hernia Neutropenia Seborrheic dermatitis Hypothyroidism Arthritis Blepharophimosis Autoimmunity Bulbous nose Hemolytic anemia Chorea Renal agenesis Specific learning disability Amenorrhea Low posterior hairline Primary amenorrhea Spina bifida Hypocalcemia Juvenile rheumatoid arthritis Nasal speech Aplasia of the uterus Right aortic arch with mirror image branching Impaired T cell function Duodenal stenosis Large forehead Retinal vascular tortuosity Conotruncal defect Aplasia of the thymus Motor delay Arteria lusoria Sacral meningocele Right aortic arch Brachycephaly Autism Brittle hair Autistic behavior Severe sensorineural hearing impairment Submucous cleft hard palate Macrocytic anemia Mixed hearing impairment Midface retrusion Delayed eruption of teeth Neoplasm Graves disease Interrupted aortic arch Short nose Velopharyngeal insufficiency Malar flattening Osteoporosis Failure to thrive Delayed puberty Perimembranous ventricular septal defect Hand oligodactyly Limited elbow movement Metopic synostosis Spina bifida occulta Aplasia/Hypoplasia of the patella Patellar hypoplasia Amblyopia Decreased circulating parathyroid hormone level Ulnar bowing Brachyturricephaly Lambdoidal craniosynostosis Flat forehead Abnormality of the carpal bones Urogenital fistula Oxycephaly Bilateral radial aplasia Aplasia of metacarpal bones Narrow face Bicoronal synostosis Coarctation of aorta Iris coloboma Limited shoulder movement Persistent cloaca Carpal bone aplasia Midface capillary hemangioma Anomalous splenoportal venous system Anterior plagiocephaly Rib fusion Short palpebral fissure Aplasia/Hypoplasia of the radius Hallux valgus Parathyroid hypoplasia Hypoplasia of the ulna Absent thumb Tracheoesophageal fistula Narrow nasal bridge Anteriorly placed anus Broad thumb Aplasia/Hypoplasia of the thumb Short humerus Oligodactyly Failure to thrive in infancy Absent radius Fibular hypoplasia Abnormality of the ureter Abnormal localization of kidney Hypoplasia of the radius Abnormality of the metacarpal bones Astigmatism Carpal synostosis Shallow orbits Coronal craniosynostosis Chromosome breakage High, narrow palate Choanal stenosis Osteosarcoma Rectovaginal fistula Poikiloderma Parathyroid agenesis Sagittal craniosynostosis Accommodative esotropia Dementia Generalized tonic-clonic seizures Vascular tortuosity Congenital conductive hearing impairment Vascular ring Central nervous system degeneration Dysdiadochokinesis Psychotic episodes Apathy Obsessive-compulsive behavior Giant platelets Hypoplasia of the brainstem Paranoia Myopathic facies Abnormality of the ear Basal ganglia calcification Abnormality of the thymus Narrow palpebral fissure Abnormality of the middle ear Axonal loss Anal stenosis Large fontanelles Mood swings Platybasia Hearing abnormality Femoral hernia Delusions Pierre-Robin sequence Alcoholism Echolalia Abnormality of the endocrine system Pulmonary artery atresia Holoprosencephaly Multicystic kidney dysplasia Aphalangy of the hands Aggressive behavior Unilateral radial aplasia Muscular hypotonia Short philtrum Intellectual disability, severe Cerebellar atrophy Absent speech Esophoria Hypospadias Perisylvian polymicrogyria Attention deficit hyperactivity disorder Hyperactivity Telecanthus Microphthalmia Anxiety Mental deterioration Hypoplasia of the thymus Sclerocornea Tetany Congenital cataract Dysmetria Anterior segment developmental abnormality Hypertonia Flexion contracture Ptosis Peripheral demyelination Psychosis Unilateral primary pulmonary dysgenesis Open mouth Hallucinations Unilateral lung agenesis Abnormal vertebral morphology Short phalanx of finger Bowing of the long bones Mitral regurgitation Increased mean corpuscular volume Esophagitis Acute leukemia Tracheomalacia Triphalangeal thumb Abnormality of the urinary system Melanoma Abnormality of the genital system Thick lower lip vermilion Reticulocytopenia Ventricular hypertrophy Mitral valve prolapse Migraine Cleft upper lip Pallor Arrhythmia Fatigue Cleft hard palate Cleft soft palate Fetal distress Broad distal phalanx of finger Small for gestational age Fine hair Aciduria Premature birth Sepsis Wide nose Hepatic failure Cirrhosis Dry skin Sparse hair Persistence of hemoglobin F Abnormality of the liver Respiratory tract infection Elevated hepatic transaminase Jaundice Polyhydramnios Long philtrum Diarrhea Edema Anteverted nares Mild conductive hearing impairment Elliptocytosis Abnormality of the hair Elevated serum creatinine Feeding difficulties Increased number of teeth Flat occiput Long eyelashes Single transverse palmar crease Highly arched eyebrow Thick eyebrow Intellectual disability, mild Gout Webbed neck Hyperuricemia Focal segmental glomerulosclerosis Preaxial polydactyly Chronic kidney disease Hematuria Postnatal growth retardation Proteinuria Dilatation Hypertension Respiratory distress Congenital diaphragmatic hernia Patent foramen ovale Talipes Hypercalciuria Nephrocalcinosis Finger clinodactyly Dental crowding Esotropia Flat face Joint hypermobility Thin vermilion border Synophrys Sparse and thin eyebrow Thin upper lip vermilion Pes planus Clinodactyly of the 5th finger Clinodactyly Talipes equinovarus Mandibulofacial dysostosis Granulocytopenia Broad neck Sparse eyebrow Chronic diarrhea Aortic regurgitation Hypotelorism Cone-shaped epiphysis Recurrent lower respiratory tract infections Scaphocephaly Prominent metopic ridge Acute kidney injury Abnormal retinal morphology Nephronophthisis Short thorax Short femoral neck Widely spaced teeth Thoracic dysplasia Cutis laxa Short ribs Wide anterior fontanel Recurrent urinary tract infections Cholestasis Sparse scalp hair Narrow forehead Microdontia Macroglossia Cone-shaped epiphyses of the phalanges of the hand Cholangitis Postaxial polydactyly Abnormality of the skeletal system Prominent nose Lymphoma Facial asymmetry Malabsorption Prominent nasal bridge Skin rash Abnormal cardiac septum morphology Agenesis of corpus callosum Optic atrophy Congenital hepatic fibrosis Myopia Absence of renal corticomedullary differentiation Short proximal phalanx of finger Aplasia of the middle phalanx of the hand Frontal upsweep of hair Accessory oral frenulum Pyelonephritis Hypoplasia of the capital femoral epiphysis Pancreatic cysts Retinal dystrophy Short distal phalanx of finger Leukopenia Abnormal thrombocyte morphology Increased serum iron Hypergalactosemia Secretory diarrhea Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Trichorrhexis nodosa Peripheral pulmonary artery stenosis Abnormality of the pancreas Hypermethioninemia Villous atrophy Woolly hair Thrombocytosis Underdeveloped supraorbital ridges Iron deficiency anemia Curly hair Abnormality of the immune system Hypoalbuminemia Recurrent upper respiratory tract infections Renal cortical microcysts Humoral immunodeficiency Abnormality of skin pigmentation Rod-cone dystrophy Retinal degeneration Oral cleft Stage 5 chronic kidney disease Smooth philtrum Scarring Skeletal dysplasia High forehead Upslanted palpebral fissure Pneumonia Galactosuria Visual loss Renal insufficiency Respiratory insufficiency Brachydactyly Visual impairment Ataxia Abnormalities of placenta or umbilical cord Large placenta Abnormality of iron homeostasis Type I truncus arteriosus



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