Hypertelorism, and Abnormality of the genital system

Diseases related with Hypertelorism and Abnormality of the genital system

In the following list you will find some of the most common rare diseases related to Hypertelorism and Abnormality of the genital system that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Hypertelorism
  • Abnormality of the kidney
  • Short philtrum
  • Bulbous nose
  • Renal agenesis


SOURCES: OMIM MENDELIAN

More info about BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR

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).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 5; DBA5

Congenital dyserythropoietic anemia type IV (CDA IV) is a newly discovered form of CDA (see this term) characterized by ineffective erythropoiesis and hemolysis that leads to severe anemia at birth.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV Is also known as cda, type iv|cda type 4|congenital dyserythropoietic anemia due to klf1 mutation|cda iv|cdan4|congenital dyserythropoietic anemia type 4|cda type iv|cda due to klf1 mutation

Related symptoms:

  • Short stature
  • Hypertelorism
  • Anemia
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 61; MRX61

Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 9; NS9

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

Parietal foramina-2 is an autosomal dominant disorder characterized by bilateral parietal foramina in the skull. Some patients with PFM2 may also have mild features of frontonasal dysplasia, including hypertelorism or nose abnormalities (summary by Altunoglu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of parietal foramina, see PFM1 (OMIM ).

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Depressed nasal bridge
  • Alopecia


SOURCES: MESH OMIM MENDELIAN

More info about PARIETAL FORAMINA 2; PFM2

Noonan syndrome is an autosomal dominant disorder characterized by short stature, craniofacial dysmorphism, short and/or webbed neck, cardiac abnormalities, cryptorchidism, and coagulation defects (summary by Yamamoto et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 10; NS10

Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas, and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when café-au-lait spots are present in patients diagnosed with NS).

NEUROFIBROMATOSIS-NOONAN SYNDROME Is also known as nfns|neurofibromatosis type 1-noonan syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Cryptorchidism
  • Ptosis
  • Downslanted palpebral fissures


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME

HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME Is also known as ostravik-lindemann-solberg syndrome

Related symptoms:

  • Hypertelorism
  • Cryptorchidism
  • Abnormality of the skeletal system
  • Syndactyly
  • Patent ductus arteriosus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Abnormality of the genital system

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Webbed neck Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Coarctation of aorta Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Abnormality of the genital system. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Sparse eyebrow Pulmonic stenosis Abnormal facial shape Global developmental delay Ptosis

Rare Symptoms - Less than 30% cases

Sparse and thin eyebrow Bulbous nose Abnormal cardiac septum morphology Short neck Curly hair Hypospadias Upslanted palpebral fissure Hypertrophic cardiomyopathy Low-set ears Anemia Parietal foramina Wide nasal ridge Symmetrical, oval parietal bone defects Abnormality of coagulation Abnormality of the sternum Mitral stenosis Hyponasal speech Aplasia cutis congenita of scalp Schwannoma Broad columella Depressed nasal tip Bilateral cryptorchidism Narrow palate Broad thumb Encephalocele Broad nasal tip Brachycephaly Alopecia Depressed nasal bridge Diastema Abnormality of the face Dysphagia Toe syndactyly Imperforate hymen 2-3 finger syndactyly Benign neoplasm of the central nervous system Duplication of phalanx of hallux Hamartoma of tongue Common atrium Complete atrioventricular canal defect Subvalvular aortic stenosis Cutaneous finger syndactyly Broad hallux Hand polydactyly Cutaneous syndactyly Postaxial hand polydactyly Postaxial polydactyly Retrognathia Low-set, posteriorly rotated ears Polydactyly Pneumonia Abnormal heart morphology Patent ductus arteriosus Syndactyly Abnormality of the skeletal system Abdominal wall muscle weakness Abnormality of the lymphatic system Abnormality of the helix Multiple cafe-au-lait spots Prolonged bleeding time Abnormality of the thorax Agenesis of lateral incisor Specific learning disability Palate fistula Cleft lip Bilateral cleft palate Reticulocytopenia Anemia of inadequate production Reticulocytosis Hyperbilirubinemia Wide anterior fontanel Hydrops fetalis Micropenis Splenomegaly Edema Cardiomyopathy Hepatomegaly Erythroid hypoplasia Increased mean corpuscular volume Normochromic anemia Macrocytic anemia Leukopenia Ventricular septal defect Growth delay Rectal atresia Bifid nose Rectovaginal fistula Anteriorly placed anus Overlapping toe Renal agenesis Short philtrum Fetal distress Congenital hypoplastic anemia Euryblepharon Epicanthus Ectropion of lower eyelids High anterior hairline Bilateral cleft lip and palate Bilateral cleft lip Ectropion Sparse eyelashes Single transverse palmar crease Protruding ear Abnormality of the kidney Hernia Midface retrusion Hyperkeratosis pilaris Erythroid hyperplasia Mild short stature Hyperkeratosis Fine hair Prominent nose Poor speech Broad forehead Behavioral abnormality Wide nasal bridge Feeding difficulties Micrognathia Microcephaly Intellectual disability Cor triatriatum


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