Hypertelorism, and Micropenis

Diseases related with Hypertelorism and Micropenis

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


Top matches:

High match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE IV


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

High match JOUBERT SYNDROME 26; JBTS26


Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

High match AUTOSOMAL DOMINANT OMODYSPLASIA


Omodysplasia-2 (OMOD2) is a rare autosomal dominant skeletal dysplasia characterized by shortened humeri, shortened first metacarpal, and craniofacial dysmorphism. See also OMOD1 (OMIM ).

AUTOSOMAL DOMINANT OMODYSPLASIA Is also known as omodysplasia, autosomal dominant

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Cryptorchidism
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT OMODYSPLASIA

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match STANKIEWICZ-ISIDOR SYNDROME; STISS


Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about STANKIEWICZ-ISIDOR SYNDROME; STISS

High match ACROCALLOSAL SYNDROME


Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

High match FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

High match HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS


HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

High match NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM


NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM Is also known as isolated congenital gonadotropin deficiency|normosmic idiopathic hypogonadotropic hypogonadism|gonadotropic deficiency|nihh

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about NORMOSMIC CONGENITAL HYPOGONADOTROPIC HYPOGONADISM

High match PAPILLOMA OF CHOROID PLEXUS; CPP


Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

High match 17P13.3 MICRODUPLICATION SYNDROME


17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Micropenis

Symptoms // Phenotype % cases
Cryptorchidism Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hypospadias Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Hypertelorism and Micropenis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hydrocephalus Nystagmus Depressed nasal bridge Seizures Low-set ears Frontal bossing Cleft palate Abnormal facial shape Short neck

Rare Symptoms - Less than 30% cases


Neoplasm Motor delay Hydronephrosis Abnormality of the skeletal system Short nose Ambiguous genitalia Hypoplasia of penis High forehead Depressivity Strabismus Feeding difficulties Behavioral abnormality Growth delay Autism Wide nasal bridge Retrognathia Increased intracranial pressure Absent thumb Micrognathia Midface retrusion Intellectual disability, severe Inguinal hernia Tall stature Microcephaly Short stature Wide anterior fontanel Recurrent infections Apraxia Molar tooth sign on MRI Ataxia Anemia Oculomotor apraxia Primary amenorrhea Gynecomastia Hypogonadotrophic hypogonadism Azoospermia Abnormality of the voice Congenital sensorineural hearing impairment Impotence Ectopic posterior pituitary Hypoplasia of the uterus Sparse body hair Generalized joint laxity Male hypogonadism Decreased serum testosterone level Absence of secondary sex characteristics Breast hypoplasia Decreased testosterone in males Eunuchoid habitus Female hypogonadism Secondary amenorrhea Wide intermamillary distance Decreased testicular size Visceromegaly Joint stiffness Spastic paraplegia Small hand Holoprosencephaly Edema Adducted thumb Bilateral cryptorchidism Hemiplegia/hemiparesis Absent septum pellucidum Aqueductal stenosis Oxycephaly Non-obstructive azoospermia Esodeviation Flexion contracture of thumb Abnormality of the dentition Cardiomyopathy Delayed skeletal maturation Osteoporosis Osteopenia Anxiety Camptodactyly Delayed puberty Hypoplasia of the ovary Talipes equinovarus Absence of pubertal development Clinodactyly of the 5th finger Choroid plexus carcinoma Failure to thrive Muscular hypotonia High palate Downslanted palpebral fissures Ventriculomegaly Hypoplasia of the corpus callosum Cerebellar atrophy Hernia Prominent forehead Papilloma Hyperactivity Narrow mouth Attention deficit hyperactivity disorder Wide nose Overgrowth Pointed chin Congenital hip dislocation Lissencephaly Large for gestational age Choroid plexus papilloma Osteosarcoma Abnormality of body height Apnea Increased female libido Agenesis of corpus callosum Atrial septal defect Vomiting Headache Hepatomegaly Pneumonia Respiratory failure Carcinoma Nausea Broad ribs Delayed eruption of teeth Macroglossia Hypertrichosis Sleep apnea Loss of consciousness Upper limb undergrowth Papilledema Broad neck Choanal stenosis Coarse facial features Hyperreflexia Babinski sign Anteverted nares Limited elbow flexion/extension Hearing impairment Growth hormone deficiency Cleft lip Hypothyroidism Delayed speech and language development Visual impairment Cerebellar hypoplasia Patent ductus arteriosus Ptosis Rhizomelic arm shortening Abnormality of the kidney Abnormal cardiac septum morphology Facial asymmetry Prominent nose Short thumb Cerebral visual impairment Horizontal nystagmus Shawl scrotum Truncus arteriosus Hypoplastic distal humeri Bifid nasal tip Sensorineural hearing impairment Hypoplasia of the maxilla Central hypothyroidism Panhypopituitarism Bilateral ptosis Recurrent upper respiratory tract infections Long philtrum Malar flattening Severe short stature Skeletal dysplasia Short palm Cone/cone-rod dystrophy Large forehead Tachypnea Rhizomelia Disproportionate short-limb short stature Elbow dislocation Bifid scrotum Dislocated radial head Short humerus Patellar dislocation Short 1st metacarpal Pineal cyst Macrocephaly Hyporeflexia Esophageal atresia Microtia Leukemia Anal atresia Full cheeks Renal hypoplasia Cafe-au-lait spot Bone marrow hypocellularity Hypoplasia of the radius Tracheoesophageal fistula Chromosome breakage Microphthalmia Depressed nasal tip Rectovaginal fistula Abnormality of chromosome stability Forearm undergrowth Hypoplastic sacrum Splenomegaly Spasticity Inferior vermis hypoplasia Hypertonia Hypertrophic cardiomyopathy Hydrops fetalis Erythroid hyperplasia Normochromic anemia Congenital hypoplastic anemia Polydactyly Retinopathy Postaxial polydactyly Retinal dystrophy Dandy-Walker malformation Postaxial hand polydactyly Sloping forehead Congenital diaphragmatic hernia Aplasia/Hypoplasia of the corpus callosum Intrauterine growth retardation Triphalangeal thumb Aplasia/Hypoplasia of the cerebellum Prominent occiput Nephronophthisis Abnormality of the clavicle Fetal distress Anemia of inadequate production Reticulocytosis Hyperbilirubinemia Disproportionate tall stature



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Osteoporosis, related diseases and genetic alterations Congestive heart failure and Hydronephrosis, related diseases and genetic alterations Brachydactyly and Progressive hearing impairment, related diseases and genetic alterations Brachydactyly and Abnormality of cardiovascular system morphology, related diseases and genetic alterations Tremor and Ulcerative colitis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more