Hypoplastic Genitalia: Causes & Reasons

Possible Causes for Hypoplastic Genitalia

genitalia; there is also an autosomal recessive form. [medical-dictionary.thefreedictionary.com]

Robinow (fetal face) syndrome is a rare inherited multisystem disorder featuring mesomelic or acromesomelic limb shortening, facial and spinal deformities, hypoplastic genitalia [ncbi.nlm.nih.gov]

genitalia and vertebral and costal anomalies. [ncbi.nlm.nih.gov]

Autosomal-Recessive Robinow Syndrome

Overview A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and hypoplastic genitalia. [checkorphan.org]

genitalia. [thritajournal.com]

[…] external genitalia in males, and renal and vertebral anomalies. [ctgt.net]

XXXXY Syndrome

genitalia, cryptorchidism, pea-size testes, micropenis, and infantile secondary sex characteristics. [web.archive.org]

genitalia cryptorchidism congenital heart defects a very round face in infancy [4] See also Edit Turner syndrome Klinefelter syndrome 49, XXXXX, a similar syndrome related [psychology.wikia.com]

[…] prognathism, gynecomastia (rare), congenital heart defects (PDA is most common), skeletal anomalies: genu valgus, pes cavus, fifth finger clinodactyly, muscular hypotonia, hypoplastic [web.archive.org]

Cornelia De Lange Syndrome

Additional findings may include cardiac defects, gastrointestinal dysfunction, hearing loss, myopia, seizures, cleft palate, and cryptorchidism or hypoplastic genitalia. [asperbio.com]

Die Smulders Vles Fryns Syndrome

[…] external genitalia. [dovemed.com]

[…] moderate intellectual deficit, brachycephaly, microstomia, very thin lips, ectomorphic (Marfanoid) habitus accompanied by extremely long, thin fingers and toes, as well as hypoplastic [accesspediatrics.mhmedical.com]

Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. [orpha.net]

Macrocephaly Type Fryns

Del 15q26.2 (OMIM 142340) NR2F2 5 Fryns syndrome-like craniofacial anomalies CHD, hypoplastic genitalia or cryptorchidism, severe prenatal growth deficiency, ID, talipes equinovarus [ncbi.nlm.nih.gov]

genitalia or cryptorchidism, severe prenatal growth deficiency, ID, talipes equinovarus &/or rockerbottom feet, single umbilical artery LRP2 Donnai-Barrow syndrome AR Core [ncbi.nlm.nih.gov]

Marfan syndrome. 6 NR2F2 Congenital heart defects, multiple types, 4 (OMIM 615779) AD Variable Fryns syndrome-like craniofacial anomalies, cardiovascular malformations, hypoplastic [ncbi.nlm.nih.gov]

X-Linked Neurodegenerative Syndrome Type Hamel

genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay. [zenodo.org]

[…] microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic [zenodo.org]

Malouf Syndrome

PMID 27116848. ^ "Hypoplastic male external genitalia". National Center for Biotechnology Information. U.S. National Library of Medicine. [en.wikipedia.org]

genitalia: underdeveloped genitalia undescended testis (males) micropenis (males) small testis (males) Note: it is possible that males with Malouf syndrome display cardiomyopathy [en.wikipedia.org]

[…] thyroid gland characterized by the absence of one lobe [7] aged appearance of the feet mild skeletal abnormalities diabetes mellitus[8] collagenoma ovarian dysgenesis (female) hypoplastic [en.wikipedia.org]

Camptodactyly Syndrome Type Guadalajara 2

[…] pubic region and genitalia, camptodactyly, talipes, shortened 2nd toes, hypoplastic patella and skeletal dysplasia probably due to homozygosity from an autosomal recessive [semanticscholar.org]

[…] patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. [orpha.net]

[…] sisters and an unrelated girl presented a distinct intrauterine growth retardation-malformation syndrome with short stature, microcephaly, pectus excavatum, hip dislocation, hypoplastic [semanticscholar.org]

Camptodactyly Syndrome Type Guadalajara III

[…] patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. [malacards.org]

Partial Trisomy 3p

Clinical features include of structural brain abnormalities, dysmorphic facies, congenital heart defects, learning disability and hypoplastic genitalia. [adc.bmj.com]

Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia [pubmed.ncbi.nlm.nih.gov]

genitalia in females. [hindawi.com]

3q13.31 Microdeletion Syndrome

[…] male genitalia and characteristic facial features. [semanticscholar.org]

Congenital deletions at the 3q13.31 locus have been recently described as a novel microdeletion syndrome characterized by developmental delay, postnatal overgrowth, hypoplastic [ncbi.nlm.nih.gov]

مقاله: Congenital deletions at the 3q13.31 locus have been recently described as a novel microdeletion syndrome characterized by developmental delay, postnatal overgrowth, hypoplastic [scipers.com]

Collodion Baby Syndrome

Another case without intrauterine growth retardation shared findings, such as ichthyosis, abnormal facial features, hypoplastic genitalia and bilateral cryptorchidism, with [ncbi.nlm.nih.gov]

Partial Trisomy 2p

[…] external genitalia, and overconstriction of the shafts of all long bones. [jamanetwork.com]

[…] glabella and nasal bridge, maxillary hypoplasia, ptosis, dacryostenosis, dolichostenomelia, hyperextensible fingers with subluxation in proximal interphalangeal joints, hypoplastic [jamanetwork.com]

Chromosome Xq Duplication

Mental, psychomotor and growth retardation, as well as, craniofacial anomalies, muscle hypotonia, hypoplastic genitalia, cryptorchidism, feeding difficulties, and endocrine [pubmed.ncbi.nlm.nih.gov]

Some boys have underdeveloped (hypoplastic) genitalia. [rarediseases.org]

While males with dup (Xq) usually present short stature, mental retardation, feeding problems, microcephaly, facial dysmorphism, hypotonia, and hypoplastic genitalia, females [link.springer.com]

Mohr Syndrome

Patient 1 had typical oral, facial and digital anomalies plus hypoplastic genitalia and short limbs. Clinically he had marked hypotonia, convulsions and apneic episodes. [ncbi.nlm.nih.gov]

[…] shortening of limbs with particularly short and broad tibiae, polydactyly of the upper limbs, severely hypoplastic external genitalia with anorchidism, anal atresia, severe [jmg.bmj.com]

Other Ambiguous or hypoplastic genitalia − − ? + − − − − − − + + − − + + Deafness ? + ? + + + ? ? + ? ? ? + ? ? ? [hindawi.com]

1q41-q42 Microdeletion Syndrome

[…] male external genitalia, growth retardation, and DD/ID with seizures and EEG abnormalities//Mild brain structural abnormalities, moderate to severe DD and failure to thrive [link.springer.com]

ID, postnatal overgrowth, hypoplastic genitalia (in men) and recognizable facial features (short philtrum and protruding lips) are observed in these patients. [scielo.br]

and a hypoplastic kidney. [nipt-geneplanet.com]

Nance-Horan Syndrome

They are combined with mesomelic shortening of the forearm and hypoplastic genitalia. No cataracts. [accessanesthesiology.mhmedical.com]

Variants of Klinefelter Syndrome

genitalia, and cryptorchidism. [medscape.com]

[…] with hypoplastic, soft testes, and a small penis. [karger.com]

[…] skeletal anomalies (radioulnar synostosis, genu valgus, pes cavus, fifth-finger clinodactyly), muscular hypotonia, hyperextensible joints, hypergonadotropic hypogonadism, hypoplastic [medscape.com]

Trisomy 3pter

Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia [e-cep.org]

genitalia in females. [hindawi.com]

The common clinical features include early postnatal death, congenital heart defect, psychomotor retardation, hypoplastic genitalia and dysmorphic face, such as frontal bossing [e-cep.org]

Camptodactyly Syndrome Guadalajara Type 1

[…] pubic region and genitalia, camptodactyly, talipes, shortened 2nd toes, hypoplastic patella and skeletal dysplasia probably due to homozygocity from an autosomal recessive [onlinelibrary.wiley.com]

[…] patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. [orpha.net]

8q22.1 Microdeletion Syndrome

/abnormal genitalia Widely spaced nipples Contractures/camptodactyly DD/ID 4/4 1/2 4/5 3/3 3/4 2/4 2/4 þ (Fig. 2) þ; inguinal hernia þ NS Hypoplastic interphalangeal creases [docksci.com]

4 with CHD þ Born at 27 weeks, prenatal drug exposure, ADHD Unknown Happy/friendly disposition Other features Brain abnormalities Postnatal microcephaly Cryptorchidism Hypoplastic [docksci.com]

Skeletal Defects, Genital Hypoplasia, and Mental Retardation

In some cases, children with Ruvalcaba syndrome have underdeveloped (hypoplastic) genitalia. [rarediseases.org]

genitalia. [rarediseases.org]

[…] disorder characterized by short stature, abnormalities affecting the head and facial (craniofacial) area, mental retardation, skeletal malformations, and/or underdeveloped (hypoplastic [rarediseases.org]

Aarskog-Scott Syndrome

Shawl scrotum without hypoplastic genitalia in a child with short stature is quite diagnostic of Aarskog syndrome but may be absent in 20% of cases and the appearance is lost [indianpediatrics.net]

Hypergonadotropic Hypogonadism - Partial Alopecia

Both sisters had hypoplastic internal genitalia and the brother showed results consistent with germinal cell aplasia. Their parents were consanguineous. [cags.org.ae]

Crane-Heise Syndrome

Either hirsutism or absence of scalp and body hair, esophageal stenosis, redundant bowel loops, hypoplastic external genitalia, hypogonadism, and cryptorchidism have been [accessanesthesiology.mhmedical.com]

[…] loops, hypogonadism/cryptorchidism and hypoplastic external genitalia (micropenis), spleen anomalies, and redundant loops of bowel with aberrant attachments have been described [accesspediatrics.mhmedical.com]

[…] short neck) and the skeleton (absent cervical vertebrae, absent or abnormal clavicles, hypoplastic scapulae, 11 rib pairs, large and small joint contractures, club foot, hypoplastic [accessanesthesiology.mhmedical.com]

Humeroradial Synostosis with Craniofacial Anomalies

Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia. [203.71.232.25]

Other abnormalities were prominent chest, female genitalia with hypoplastic labia majora [Figure 1]. [jcnonweb.com]

Distal Trisomy 15q

Some of the noted dysmorphic findings, namely the small palpebral fissures, micrognathia, long slender fingers, incurving and overlapping of toes, and hypoplastic genitalia [hindawi.com]

[…] abnormalities (hypospadias, cryptorchidism and micropenis), hand and feet abnormalities (brachidactyly, absent or hypoplastic middle phalanges of hands, talipes equinovarus [ec.bioscientifica.com]

genitalia + + − − − Cardiac anomaly Ebstein anomaly Ventricular septation VSD+ASD Ebstein anomaly Ebstein anomaly Other Radiologic appearance of the clavicles Anencephaly [hindawi.com]

Wiedemann-Steiner Syndrome

Other frequent findings include cardiac septal defects, gastrointestinal dysfunction, hearing loss, myopia, and cryptorchidism or hypoplastic genitalia. [preventiongenetics.com]

Lin-Gettig Syndrome

genitalia. [fdna.health]

[…] brothers with sagittal or metopic craniosynostosis, agenesis of the corpus callosum, joint contractures and camptodactyly, blepharophimosis and ptosis (in one case) and hypoplastic [fdna.health]