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Long penis

MedGen UID:
82837
Concept ID:
C0269011
Finding
Synonyms: Enlarged penis; Large penis
SNOMED CT: Increased size of penis (88673001); Large penis (88673001)
 
HPO: HP:0000040

Definition

Penile length more than 2 SD above the mean for age. [from HPO]

Conditions with this feature

Leprechaunism syndrome
MedGen UID:
82708
Concept ID:
C0265344
Disease or Syndrome
INSR-related severe syndromic insulin resistance comprises a phenotypic spectrum that is a continuum from the severe phenotype Donohue syndrome (DS) (also known as leprechaunism) to the milder phenotype Rabson-Mendenhall syndrome (RMS). DS at the severe end of the spectrum is characterized by severe insulin resistance (hyperinsulinemia with associated fasting hypoglycemia and postprandial hyperglycemia), severe prenatal growth restriction and postnatal growth failure, hypotonia and developmental delay, characteristic facies, and organomegaly involving heart, kidneys, liver, spleen, and ovaries. Death usually occurs before age one year. RMS at the milder end of the spectrum is characterized by severe insulin resistance that, although not as severe as that of DS, is nonetheless accompanied by fluctuations in blood glucose levels, diabetic ketoacidosis, and – in the second decade – microvascular complications. Findings can range from severe growth delay and intellectual disability to normal growth and development. Facial features can be milder than those of DS. Complications of longstanding hyperglycemia are the most common cause of death. While death usually occurs in the second decade, some affected individuals live longer.
Deficiency of steroid 11-beta-monooxygenase
MedGen UID:
82783
Concept ID:
C0268292
Disease or Syndrome
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder of corticosteroid biosynthesis resulting in androgen excess, virilization, and hypertension. The defect causes decreased synthesis of cortisol and corticosterone in the zona fasciculata of the adrenal gland, resulting in accumulation of the precursors 11-deoxycortisol and 11-deoxycorticosterone; the latter is a potent salt-retaining mineralocorticoid that leads to arterial hypertension (White et al., 1991). CAH due to 11-beta-hydroxylase deficiency accounts for approximately 5 to 8% of all CAH cases; approximately 90% of cases are caused by 21-hydroxylase deficiency (201910) (White et al., 1991).
Rabson-Mendenhall syndrome
MedGen UID:
78783
Concept ID:
C0271695
Disease or Syndrome
INSR-related severe syndromic insulin resistance comprises a phenotypic spectrum that is a continuum from the severe phenotype Donohue syndrome (DS) (also known as leprechaunism) to the milder phenotype Rabson-Mendenhall syndrome (RMS). DS at the severe end of the spectrum is characterized by severe insulin resistance (hyperinsulinemia with associated fasting hypoglycemia and postprandial hyperglycemia), severe prenatal growth restriction and postnatal growth failure, hypotonia and developmental delay, characteristic facies, and organomegaly involving heart, kidneys, liver, spleen, and ovaries. Death usually occurs before age one year. RMS at the milder end of the spectrum is characterized by severe insulin resistance that, although not as severe as that of DS, is nonetheless accompanied by fluctuations in blood glucose levels, diabetic ketoacidosis, and – in the second decade – microvascular complications. Findings can range from severe growth delay and intellectual disability to normal growth and development. Facial features can be milder than those of DS. Complications of longstanding hyperglycemia are the most common cause of death. While death usually occurs in the second decade, some affected individuals live longer.
Roberts-SC phocomelia syndrome
MedGen UID:
95931
Concept ID:
C0392475
Disease or Syndrome
ESCO2 spectrum disorder is characterized by mild-to-severe prenatal growth restriction, limb malformations (which can include bilateral symmetric tetraphocomelia or hypomelia caused by mesomelic shortening), hand anomalies (including oligodactyly, thumb aplasia or hypoplasia, and syndactyly), elbow and knee flexion contractures (involving elbows, wrists, knees, ankles, and feet [talipes equinovarus]), and craniofacial abnormalities (which can include bilateral cleft lip and/or cleft palate, micrognathia, widely spaced eyes, exophthalmos, downslanted palpebral fissures, malar flattening, and underdeveloped ala nasi), ear malformation, and corneal opacities. Intellectual disability (ranging from mild to severe) is common. Early mortality is common among severely affected pregnancies and newborns; mildly affected individuals may survive to adulthood.
Neonatal pseudo-hydrocephalic progeroid syndrome
MedGen UID:
140806
Concept ID:
C0406586
Disease or Syndrome
Wiedemann-Rautenstrauch syndrome (WDRTS) is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment (summary by Toriello, 1990). Average survival in WDRTS is 7 months, although survival into the third decade of life has been reported (Akawi et al., 2013).
Trigonocephaly 1
MedGen UID:
98473
Concept ID:
C0432122
Congenital Abnormality
Individuals with trigonocephaly have a keel-shaped forehead with wide biparietal diameter, resulting in a triangular shape of the head. Trigonocephaly results from premature closure of the metopic sutures and usually occurs sporadically (summary by Frydman et al., 1984). Genetic Heterogeneity of Isolated Trigonocephaly Also see trigonocephaly-2 (TRIGNO2; 614485), caused by mutation in the FREM1 gene (608944) on chromosome 9p22.
Zimmermann-Laband syndrome 1
MedGen UID:
1639277
Concept ID:
C4551773
Disease or Syndrome
Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears (summary by Balasubramanian and Parker, 2010). Genetic Heterogeneity of Zimmermann-Laband Syndrome ZLS2 (616455) is caused by mutation in the ATP6V1B2 gene (606939) on chromosome 8p21. ZLS3 (618658) is caused by mutation in the KCNN3 gene (602983) on chromosome 1q21.

Professional guidelines

PubMed

Memik O, Voyvoda B, Ustuner M, Karsli O, Halat AO, Ozcan L
Prog Urol 2023 Dec;33(15-16):1008-1013. Epub 2023 Sep 26 doi: 10.1016/j.purol.2023.09.010. PMID: 37758608
Timmermans FW, Mokken SE, Poor Toulabi SCZ, Bouman MB, Özer M
Int J Impot Res 2022 Aug;34(5):424-433. Epub 2021 Apr 14 doi: 10.1038/s41443-021-00438-3. PMID: 33854205
Skrodzka M, Heffernan Ho D, Ralph D
Sex Med Rev 2020 Apr;8(2):303-313. Epub 2019 Aug 29 doi: 10.1016/j.sxmr.2019.07.003. PMID: 31474579

Recent clinical studies

Therapy

Veale D, Vaidya A, Papageorgiou A, Foks M, Giona S, Hodsoll J, Freeston M, Muir G
BJU Int 2021 Sep;128(3):374-385. Epub 2021 May 7 doi: 10.1111/bju.15416. PMID: 33793040
Rodríguez ÁH, Lima Júnior EM, de Moraes Filho MO, Costa BA, Bruno ZV, Filho MPM, Amaral de Moraes ME, Rodrigues FAR, Paier CRK, Bezerra LRPS
J Minim Invasive Gynecol 2020 Nov-Dec;27(7):1474-1475. Epub 2020 Mar 3 doi: 10.1016/j.jmig.2020.02.017. PMID: 32142893

Clinical prediction guides

Kompanje EJ
Arch Sex Behav 2006 Oct;35(5):603-5. doi: 10.1007/s10508-006-9057-z. PMID: 17031589

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