Genital Hypoplasia: Causes & Reasons

Possible Causes for Genital Hypoplasia

CHARGE Syndrome Background: CHARGE is the acronym that describes the following features: Coloboma, Heart defects, Atresia (choanal), Retardation (mental), Genital hypoplasia [ajnr.org]

hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. [ncbi.nlm.nih.gov]

They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies [ncbi.nlm.nih.gov]

Robinow Syndrome

Abstract Robinow syndrome is characterized by a triad of craniofacial dysmorphisms, disproportionate-limb short stature, and genital hypoplasia. [escholarship.org]

Robinow syndrome, originally described in 1969, consists of mesomelic brachymelia, short stature, genital hypoplasia and characteristic facies. [ncbi.nlm.nih.gov]

In 1969, Robinow and colleagues described a syndrome of mesomelic shortening, hemivertebrae, genital hypoplasia, and "fetal facies". [ncbi.nlm.nih.gov]

Autosomal-Recessive Robinow Syndrome

[…] see paper; ..., short stature, mesomelic limb shortening, hypertelorism, mandibular hypoplasia, irregular dental alignment, genital hypoplasia; radiography short long bones [databases.lovd.nl]

[…] limb shortening, as well as brachydactyly, clinodactyly, gingival hyperplasia, and genital hypoplasia are generally common to both forms. [orpha.net]

[…] flat nose, low set ears, limited suppination, persistent primary teeth, brachydactyly, bilateral cryptorchidism, genital hypoplasia (1/2); radiography short long bones, bilateral [databases.lovd.nl]

Melhem-Fahl Syndrome

[…] obesity genital hypoplasia Mental retardation nasal papillomata Mental retardation osteosclerosis Mental retardation progressive spasticity Mental retardation psychosis macroorchidism [en.wikipedia.org]

[…] obesity genital hypoplasia Mental retardation n-Mental retardation s Mental retardation nasal papillomata Mental retardation osteosclerosis Mental retardation progressive [statemaster.com]

[…] facial Mental retardation microcephaly unusual facies Mental retardation multiple nevi Mental retardation myopathy short stature endocrine defect Mental retardation nasal hypoplasia [mindmappedia.com]

Popliteal Pterygium Syndrome

In both, only the proposita revealed the full pattern of the PPS including lip pits, clefts, gingival synechiae, popliteal pterygia, syndactyly and genital hypoplasia. [ncbi.nlm.nih.gov]

Rarely is it transmitted from affected parent to offspring due to genital hypoplasia. [pediatrics.aappublications.org]

IMAGE Syndrome

ORPHA:85173 Classification level: Disorder Synonym(s): Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome Prevalence [orpha.net]

Components of the syndrome are intrauterine growth retardation (IUGR), metaphyseal dysplasia, congenital adrenal hypoplasia and genital anomalies. [ncbi.nlm.nih.gov]

and genital anomalies. [ncbi.nlm.nih.gov]

Laurence Moon Syndrome

The pre-pubertal siblings (9 and 11 years old) had genital hypoplasia and undetectable plasma levels of testosterone, though there was a significant rise after HCG stimulation [eje.bioscientifica.com]

hypoplasia.'" [nejm.org]

hypoplasia in the pre-pubertal boys with this inherited disorder. [eje.bioscientifica.com]

Ulnar Mammary Syndrome

hypoplasia is frequently seen in males, resulting in micropenis, cryptorchidism, and/or a shawl scrotum. 4 Other abnormalities include defects of the heart, endocrine system [ncbi.nlm.nih.gov]

and genital abnormalities. [invitae.com]

Most patients have varying degrees of genital hypoplasia with hypospadias, micropenis and occasional ambiguous genitalia in males and labial hypoplasia, hymenal atresia and [atlasgeneticsoncology.org]

Mononen-Karnes-Senac Syndrome

[…] obesity genital hypoplasia Mental retardation n – Mental retardation s Mental retardation nasal papillomata Mental retardation osteosclerosis Mental retardation progressive [en.wikipedia.org]

Mental retardation nasal hypoplasia obesity genital hypoplasia[?] Mental retardation nasal papillomata[?] Mental retardation osteosclerosis[?] [encyclopedia.kids.net.au]

Malignant Hyperthermia - Arthrogryposis - Torticollis

[…] obesity genital hypoplasia Mental retardation n-Mental retardation s Mental retardation nasal papillomata Mental retardation osteosclerosis Mental retardation progressive [thefullwiki.org]

Mental retardation nasal hypoplasia obesity genital hypoplasia[?] Mental retardation nasal papillomata[?] Mental retardation osteosclerosis[?] [encyclopedia.kids.net.au]

Posterior Choanal Atresia

Its entities are (ocular) Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genital hypoplasia and Ear anomalies or hearing loss. [ncbi.nlm.nih.gov]

hypoplasia.[1] CHARGE syndrome.[1] others. [en.wikipedia.org]

[…] babies born with choanal atresia also have other abnormalities: coloboma.[1] heart defects and cardiovascular disease.[1] intellectual disability.[1] growth impairment.[1] genital [en.wikipedia.org]

Choanal Atresia

Genital hypoplasia. This condition is the incomplete development of the vagina in girls, or the penis in boys. [healthline.com]

hypoplasia, and ear anomalies. [6] [7] [8] Evaluation The diagnosis of this condition should be done immediately after birth. [statpearls.com]

[…] other congenital deformities can also be present as seen in CHARGE association, a malformative syndrome that includes coloboma, heart disease, CA, retarded development, genital [jisppd.com]

Myelocerebellar Disorder

hypoplasia Truncal obesity Adrenal insufficiency Decreased muscle mass Failure to thrive in infancy Increased body weight Skeletal muscle hypertrophy Large hands Scrotal [mendelian.co]

[…] obesity genital hypoplasia Mental retardation n-Mental retardation s * Mental retardation nasal papillomata * Mental retardation osteosclerosis * Mental retardation progressive [en.academic.ru]

[…] obesity genital hypoplasia Mental retardation n-Mental retardation s Mental retardation nasal papillomata Mental retardation osteosclerosis Mental retardation progressive [thefullwiki.org]

Acrorenal Mandibular Syndrome

DEVELOPMENTAL DISABILITY, AND SEIZURES SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES Shwachman-Diamond Syndrome 2 Skeletal Defects, Genital [rgd.mcw.edu]

Fanconi anemia Fragile X Syndrome Fraser syndrome Goldenhar Syndrome Hoyeraal-Hreidarsson syndrome IMAGe [intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia [malformations.org]

[…] is a rare multisystem disorder characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. [mendelian.co]

Congenital Malformation of the Eye

hypoplasia, and ear abnormalities). [merckmanuals.com]

hypoplasia)과 귀의 기형(Ear anomalies) 중 최소 4가지 질환을 동반할 경우를 일컫는다. [kjorl.org]

hypoplasia, and ear abnormalities), cat eye syndrome, Kabuki syndrome, or Aicardi syndrome. [merckmanuals.com]

Crane-Heise Syndrome

There were unusual facial features, digital anomalies, cleft palate, a malformed tongue that prevented swallowing, absent clavicles and genital hypoplasia. [ncbi.nlm.nih.gov]

hypoplasia. [journals.lww.com]

Lewis-Pashayan syndrome myotonia obesity genital hypoplasia QPD Enamel hypoplasia X-linked Cleft lip palate abnormal thumbs X-linked 1 Charcot-Marie-Tooth microcephaly Gamstorp [yumpu.com]

Synorchism

[…] malformations of male genital organs › Hypoplasia of testis and scrotum 2016 2017 2018 2019 Billable/Specific Code Male Dx POA Exempt Q55.1 is a billable/specific ICD-10- [icd10data.com]

hypoplasia and ear anomalies). 61 1 Feldman GL, Weaver DD, Lovrien EW: The fetal trimethadione syndrome: Report of an additional family and further delineation of this syndrome [glowm.com]

[…] androgen insensitivity syndrome ( E34.5 -) syndromes associated with anomalies in the number and form of chromosomes ( Q90 - Q99 ) Q55 Other congenital malformations of male genital [icd10coded.com]

Absence of Nasal Bones

hypoplasia; Ear anomalies and/or deafness)12. [bjorl.org]

[…] described malformations, making up the so called C.H.A.R.G.E. syndrome (Coloboma of the eye; Heart disease; Atresia of the choana; Retarded growth, development or CNS anomalies; Genital [bjorl.org]

Partial Trisomy 17p

Genital hypoplasia in males and hypertrichosis are often observed. Intellectual deficit is severe to profound and the prognosis is poor. [ncbi.nlm.nih.gov]

Skeletal Defects, Genital Hypoplasia, and Mental Retardation

disproportionate short stature, and genital hypoplasia. [genome.jp]

DISEASE: Skeletal defects, genital hypoplasia, and mental retardation エントリ H00969 名称 Skeletal defects, genital hypoplasia, and mental retardation 概要本疾患は、精神遅滞、頭蓋顔面異形症、不均衡な [genome.jp]

Additional features include absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia. [uniprot.org]

Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia

Recently, four children with an unusual combination of limb anomalies, facial dysmorphism and genital hypoplasia have been reported. [insights.ovid.com]

Follow @RadiologyGamuts Tibial aplasia-polydactyly-brachyphalangy-dysmorphism-genital hypoplasia May Cause Blepharophimosis [gamuts.net]

The patient had tibial aplasia, mirror image preaxial polydactyly involving her feet, brachyphalangy, genital hypoplasia as well as facial dysmorphism including telecanthus [insights.ovid.com]

Collodion Baby Syndrome

hypoplasia. [ncbi.nlm.nih.gov]

Here, we describe an 8-year-old boy who was born with collodion membrane, facial dysmorphic features, limb anomalies, genital hypoplasia and pachygyria. [ncbi.nlm.nih.gov]

In this article, we present a 3-year-old boy who was born with collodion membrane, facial dysmorphic features, limb anomalies, genital hypoplasia and pachygyria. [ncbi.nlm.nih.gov]

Familial Hypersecretion of Adrenal Androgens

IMA Ge, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. [link.springer.com]

Trisomy 22q

hypoplasia, osteoarticular abnormalities (mostly clubfoot), and poor survival. [pubmed.ncbi.nlm.nih.gov]

[…] defective skull ossification, hypertelorism, narrow palpebral fissures, short broad nose, cleft palate with or without lip involvement, short neck, cardiac defect, renal and genital [pubmed.ncbi.nlm.nih.gov]

Congenital Disorder of Glycosylation Type 1G

Characteristic symptoms of ALG12-CDG are psychomotor delay, intellectual disability, microcephaly, hypotonia, facial dysmorphism and male genital hypoplasia. [fcdgc.rarediseasesnetwork.org]

CDG1G is a multisystem disorder characterized by impaired psychomotor development, dysmorphic features, failure to thrive, male genital hypoplasia, coagulation abnormalities [ncbi.nlm.nih.gov]

Short Stature - Amelogenesis Imperfecta - Skeletal Dysplasia with Scoliosis

Congenita, And Genital Anomalies AD 73.58% 55 of 76 CEP120 Jeune Syndrome, Joubert Syndrome, Short-Rib Thoracic Dysplasia With Or Without Polydactyly AR 99.80% 9 of 9 CFAP410 [igenomix.es]

36 CDKN1C Beckwith-Wiedemann Syndrome, IMAGE Syndrome, Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome, Metaphyseal Dysplasia, Adrenal Hypoplasia [igenomix.es]

Congenita Genital Anomalies And Immunodeficiency, Polymerase Proofreading-Related Adenomatous Polyposis AD,AR 100% 100 of 100 POLR1C Hypomyelination-Hypogonadotropic Hypogonadism [igenomix.es]

Kallmann Syndrome Type 6

KS patients typically present with delayed puberty, and the reproductive phenotype may range from genital hypoplasia (i.e., cryptorchidism and/or microphallus) through partial [tandfonline.com]

Additional phenotypic overlap between these syndromes was reported: prepubertal boys with CHARGE accompanied by genital hypoplasia were noted to have low sex steroid levels [tandfonline.com]

The acronym CHARGE (coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia and ear abnormalities/hearing loss) was proposed 2 years later [tandfonline.com]

Congenita And Genital Anomalies, Image Syndrome AD 73.58 55 of 76 CEP120 Joubert Syndrome, Short-Rib Thoracic Dysplasia With Or Without Polydactyly, Jeune Syndrome, Joubert [igenomix.es]

Aplasia-Ectrodactyly Syndrome AR 43.88 6 of 7 CD96 C Syndrome AD 100 4 of 4 CDKN1C Beckwith-Wiedemann Syndrome, Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia [igenomix.es]

Omodysplasia

Autosomal dominant omodysplasia shares similar features with dominant Robinow syndrome, including midfacial hypoplasia, genital hypoplasia and short humeri. [fdna.health]

Absent Radius - Anogenital Anomalies Syndrome

disproportionate short stature, and genital hypoplasia. [genome.jp]

and genital abnormalities. [invitae.com]

hypoplasia Ear abnormalities Multidisciplinary care of cleft palate Orthodontist Surgeon Speech therapist Repair at 3 months for lip, palate repaired at 9 months Expected [brainscape.com]