Orphanet: Clinical Signs and Symptoms

Clinical Signs and Symptoms

ORPHA:49 Penile agenesis

The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.

Pathognomonic sign *

Absent penis HP:0030261

* A pathognomonic sign is a sign whose presence indicates that a particular disease is present beyond any doubt. The absence of this sign does not exclude the possibility of the presence of the disease, but the presence of the pathognomonic sign affirms it with certainty.

Clinical signs and symptoms

Very frequent

Abnormality of the bladder HP:0000014
Absent penis HP:0030261
Ambiguous genitalia HP:0000062
Anal atresia HP:0002023
Anorectal anomaly HP:0012732
Bilateral renal hypoplasia HP:0012584
Cloacal abnormality HP:0012620
Depressed nasal bridge HP:0005280
Fetal pyelectasis HP:0010945
Hydronephrosis HP:0000126
Hydroureter HP:0000072
Oligohydramnios HP:0001562
Posteriorly rotated ears HP:0000358
Pulmonary hypoplasia HP:0002089
Rectal fistula HP:0100590
Short nose HP:0003196
Unilateral renal hypoplasia HP:0012583
Urethral fistula HP:0010480

Occasional

Atrial septal defect HP:0001631
Atrophy of the spinal cord HP:0006827
Bilateral lung agenesis HP:0005944
Bilateral renal agenesis HP:0010958
Bilateral talipes equinovarus HP:0001776
Cryptorchidism HP:0000028
Cystic renal dysplasia HP:0000800
Maternal diabetes HP:0009800
Tracheoesophageal fistula HP:0002575
Urethral atresia, male HP:0000052
Ventricular septal defect HP:0001629

Additional information

Further information

Specialised Social Services

Eurordis directory

Warning

The information provided is based on published scientific articles.

The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.

The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.

Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.