Anemia, and Telecanthus

Diseases related with Anemia and Telecanthus

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


Top matches:

Medium match SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Medium match MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16

Medium match POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

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Other less relevant matches:

Medium match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Medium match MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS


MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

Medium match ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX


ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

Low match DUBOWITZ SYNDROME


Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ 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

Low match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Low match FAMILIAL LAMBDOID SYNOSTOSIS


Familial lambdoid synostosis is a rare, genetic cranial malformation characterized by unilateral or bilateral synostosis of the lambdoid suture in multiple members of a single family. Unilateral cases typically present ipsilateral occipitomastoid bulge, compensatory contralateral parietal and frontal bossing, displacement of one ear, lateral deviation of jaw and compensatory deformation of cervical spine while bilateral cases usually manifest with flat and widened occiput, displacement of both ears and frequent occurrence of raised intracranial pressure.

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Muscular hypotonia
  • Spasticity
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL LAMBDOID SYNOSTOSIS

Top 5 symptoms//phenotypes associated to Anemia and Telecanthus

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Cryptorchidism Ptosis Flexion contracture Strabismus Epicanthus Brachydactyly Anteverted nares Depressed nasal bridge Micrognathia Myopia Behavioral abnormality Sensorineural hearing impairment Hypertonia Hearing impairment Low-set ears Hydrocephalus Craniosynostosis Thrombocytopenia Spasticity Hydronephrosis Wide nasal bridge Growth delay Talipes equinovarus Self-injurious behavior Atrial septal defect Perimembranous ventricular septal defect Abnormality of the dentition Macroglossia Optic atrophy Proptosis Short nose Postnatal growth retardation Short neck Autism Abnormal heart morphology Hypospadias Prominent forehead Downturned corners of mouth Ventricular septal defect Recurrent infections Muscular hypotonia Midface retrusion Retrognathia Gastroesophageal reflux Recurrent urinary tract infections Small hand Scoliosis Volvulus Delayed speech and language development Blepharophimosis High palate Clinodactyly of the 5th finger Neoplasm Nystagmus

Rare Symptoms - Less than 30% cases


Synophrys Thick lower lip vermilion Hip dislocation Aganglionic megacolon Respiratory tract infection Hypertrophic cardiomyopathy Proteinuria Tented upper lip vermilion U-Shaped upper lip vermilion Male pseudohermaphroditism Patent ductus arteriosus Pectus excavatum Hirsutism Abnormality of the skeletal system Abnormal hemoglobin Macrocephaly Cardiomyopathy Low anterior hairline Low posterior hairline Thick vermilion border Aspiration Hypoparathyroidism Broad thumb Delayed eruption of teeth Toe syndactyly Attention deficit hyperactivity disorder Cleft palate Protruding ear Abnormality of cardiovascular system morphology Fever Intrauterine growth retardation Inguinal hernia Narrow mouth Abnormality of the pinna Astigmatism Long eyelashes High, narrow palate Renal agenesis Tapered finger Microtia Umbilical hernia Posteriorly rotated ears Pneumonia Clinodactyly Malar flattening Cutis marmorata Vomiting Intellectual disability, severe Feeding difficulties Generalized hypotonia Ambiguous genitalia Delayed skeletal maturation Everted lower lip vermilion Short philtrum Profound global developmental delay Agenesis of corpus callosum Glaucoma Frontal bossing Abnormality of skin pigmentation Abnormality of the genital system Sloping forehead Single transverse palmar crease Prominent nasal bridge Autistic behavior Craniofacial dysostosis Hypothyroidism Drooling Micropenis Brachycephaly Obesity Syndactyly Failure to thrive Hypertension Severe short stature Sparse lateral eyebrow Cataract Small for gestational age Constipation Abnormality of the kidney High forehead Flat face Hyperactivity Bicuspid aortic valve Schizophrenia Thin upper lip vermilion Mandibular prognathia Arnold-Chiari malformation Hyperhidrosis Hypocalcemia Hernia Headache Nasal speech Long philtrum Cholelithiasis Rheumatoid arthritis Purpura Spina bifida Hypoglycemia Pulmonic stenosis Pulmonary hypoplasia Thick eyebrow Thin vermilion border Cleft upper lip Vertigo Micromelia Pallor Parathyroid agenesis Primary amenorrhea Renal dysplasia Camptodactyly Amblyopia Exotropia Aggressive behavior Conductive hearing impairment Type I truncus arteriosus Autoimmune hemolytic anemia Autoimmune thrombocytopenia Myelomeningocele Aplasia of the uterus Hypoplasia of the thymus Anterior segment developmental abnormality Seborrheic dermatitis Juvenile rheumatoid arthritis Unilateral renal agenesis Tetany Truncus arteriosus Interrupted aortic arch Sclerocornea Meningocele Vitiligo Acne Bipolar affective disorder Inflammation of the large intestine Posterior embryotoxon Graves disease Femoral hernia Parathyroid hypoplasia Aplasia of the thymus Psoriasiform dermatitis Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Esophoria Right aortic arch with mirror image branching Arteria lusoria Conotruncal defect Alcoholism Vascular tortuosity Highly arched eyebrow Abnormality of the middle ear Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Impaired T cell function Right aortic arch Abnormality of the thymus Congenital diaphragmatic hernia Sleep disturbance Absent hand Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Hypertropia Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Gastroparesis Reduced renal corticomedullary differentiation Supernumerary ribs Phocomelia Hand oligodactyly Short sternum Peters anomaly Panhypopituitarism Recurrent hypoglycemia Thick upper lip vermilion Otitis media with effusion Abnormality of the umbilicus Abnormality of the gastrointestinal tract Anterior plagiocephaly Pansynostosis Diminished ability to concentrate Round ear Prominent scalp veins Ectopic posterior pituitary Lambdoidal craniosynostosis Dimple chin Stomatocytosis Arnold-Chiari type I malformation Hypoplastic radial head External ear malformation Flat occiput Optic nerve hypoplasia Increased intracranial pressure Plagiocephaly Microretrognathia Facial asymmetry Dysplastic tricuspid valve Optic nerve coloboma Hypoplastic labia majora Microcornea Renal hypoplasia Relative macrocephaly Widely spaced teeth Torticollis Spontaneous abortion Elbow flexion contracture Increased body weight Choanal atresia Hypertrichosis Blue sclerae Abnormality of the urinary system High myopia Microdontia Otitis media Webbed neck Vesicoureteral reflux Sepsis Triangular face Renal cyst Hypoplasia of the radius Incoordination Esophagitis Abnormality of digit Aspiration pneumonia Hiatus hernia Poor appetite Ectrodactyly Oligodactyly Hypoplastic nipples Dislocated radial head Weak cry Limited elbow extension Deep philtrum Opisthotonus Ectopic kidney 2-3 toe syndactyly Short middle phalanx of finger Tricuspid regurgitation Clubbing Proximal placement of thumb Pyloric stenosis Short metatarsal Short palpebral fissure Autoimmunity Coarctation of aorta Dysostosis multiplex Obstructive lung disease J-shaped sella turcica Macrovesicular hepatic steatosis Acetabular dysplasia Flared iliac wings Large forehead Beaking of vertebral bodies Tubular atrophy Wormian bones Barrel-shaped chest Focal segmental glomerulosclerosis Glomerulosclerosis Coarse hair Bone marrow hypocellularity Joint contracture of the hand Thickened skin Cutaneous syndactyly Hypoplastic acetabulae Pain Cerebral calcification Intellectual disability, moderate Radial deviation of finger Infantile muscular hypotonia Hemivertebrae Coxa valga Downslanted palpebral fissures Dental malocclusion Irritability Kyphoscoliosis Underdeveloped nasal alae Abdominal pain Abnormality of metabolism/homeostasis Cerebral atrophy Broad forehead Delayed puberty Broad nasal tip Prominent nose Dysphagia Abnormal lung morphology Delayed myelination Hydroureter Cerebral cortical atrophy Blindness Respiratory distress Depressivity Hyperreflexia Hepatomegaly Abnormality of the male genitalia Abnormality of fontanelles Feeding difficulties in infancy Splenomegaly Joint stiffness Dysphasia Encephalitis Spastic paraplegia Abnormality of the face Nausea and vomiting Abnormality of movement Depressed nasal ridge Cutaneous syndactyly between fingers 2 and 5 Multiple exostoses Brain atrophy Pectus carinatum Hepatic steatosis Sparse eyebrow Wide nose Nephroblastoma Abnormality of the foot Aniridia Turricephaly Abnormal pyramidal sign Parietal foramina Exostoses Depressed nasal tip Decreased skull ossification Hepatosplenomegaly Coarse facial features Skeletal dysplasia Recurrent respiratory infections Congenital ptosis Spastic diplegia Microcytic anemia Tetralogy of Fallot Acute lymphoblastic leukemia Cognitive impairment Hypopigmented skin patches Abnormality of thumb phalanx Abnormality of female external genitalia Abnormality of neutrophils Rectal prolapse Abnormality of the antihelix Anal stenosis Hypopigmentation of the skin Underdeveloped supraorbital ridges Submucous cleft hard palate Aplasia/Hypoplasia of the thumb Delayed cranial suture closure Metatarsus adductus Spotty hypopigmentation Hypoplastic toenails Sacral dimple Sparse and thin eyebrow Hypoplasia of the corpus callosum Sandal gap Bulbous nose Amenorrhea Specific learning disability Chorea Bifid uvula Hemolytic anemia Iris coloboma Polymicrogyria Osteopenia Immunodeficiency Generalized tonic-clonic seizures Hypoplasia of penis Sparse hair Cleft lip Arthritis Talipes Short distal phalanx of finger Microphthalmia Aplasia/Hypoplasia of the corpus callosum Spina bifida occulta Protruding tongue Reduced alpha/beta synthesis ratio Respiratory insufficiency Adducted thumb Cortical gyral simplification Muscle fibrillation Hypoganglionosis Hemoglobin H Endometriosis Widely-spaced maxillary central incisors Decreased body weight Triangular mouth Absent frontal sinuses Ileus Hypochromic microcytic anemia Decreased serum testosterone level Chronic constipation Facial hypotonia Shawl scrotum Knee flexion contracture Low-set, posteriorly rotated ears Abnormality of the fingernails Eczema Anisopoikilocytosis Narrow face Wide anterior fontanel Chronic diarrhea Congestive heart failure Sparse scalp hair Cutaneous photosensitivity Fine hair Lymphoma Open mouth Asthma Short foot Dry skin Joint hyperflexibility Malabsorption Tetraplegia Wide mouth Spastic tetraplegia Posterior plagiocephaly



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