PEDIATRIC UROLOGY Female counterpart of shawl scrotum in aarskog-scott syndrome Suzana G. Moraes; G. Guerra-Junior; A. T.
[scielo.br]
' or 'shawl scrotum').
[ibis-birthdefects.org]
The main features are short stature, ocular hypertelorism, brachydactyly, and penoscrotal transposition (shawl scrotum) in males (1).
[scielo.br]
scrotum Abnormality of the integument Abnormality of the toenails Axillary pterygia Fragile nails High anterior hairline Low posterior hairline Ridged nail Split nail Widow
[familydiagnosis.com]
scrotum Note that Craniofrontonasal dysplasia symptoms usually refers to various symptoms known to a patient, but the phrase Craniofrontonasal dysplasia signs may refer to
[checkorphan.org]
Some individuals diaphragm hernia, pectus excavatum, shawl scrotum, hypospadias and hypogenesis callosum.
[ivami.com]
Genital anomalies, such as micropenis, shawl scrotum, and imperforate hymen are further features. A wide range of phenotypic expression exists in UMS.
[link.springer.com]
scrotum. 4 Other abnormalities include defects of the heart, endocrine system, teeth, and palate. 3, 4 Interestingly, malformations of the lower extremities are not reported
[ncbi.nlm.nih.gov]
scrotum in males defects of the endocrine system, teeth, and palate References Bamshad, M, et al.
[invitae.com]
Genital anomalies are characteristics and include shawl scrotum, cryptorchidism, and inguinal hernia.
[cags.org.ae]
Disease definition A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.
[orpha.net]
This syndrome is characterized by short stature, shawl scrotum, facial abnormality, and clinodactyly.
[jmgims.co.in]
Hypospadias and shawl scrotum are present in all males. Acral manifestations include syndactyly of fingers, broad thumbs or halluces or preaxial polydactyly.
[checkorphan.org]
scrotum Scrotum surrounds penis 0000049 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth
[rarediseases.info.nih.gov]
0000239 Low-set ears Low set ears Lowset ears [ more ] 0000369 Posteriorly rotated ears Ears rotated toward back of head 0000358 Preaxial hand polydactyly Extra thumb 0001177 Shawl
[rarediseases.info.nih.gov]
' or 'shawl scrotum').
[ibis-birthdefects.org]
Digits (hands/feet) : Brachydactyly, mild cutaneous syndactyly (webbing), clinodactyly of 5th finger Genitalia : "Shawl scrotum" (Scrotum surrounds the penis like a shawl)
[genetics4medics.com]
This syndrome is characterized by short stature, shawl scrotum, facial abnormality, and clinodactyly.
[jmgims.co.in]
scrotum 58 30 Frequent (33%) Frequent (79-30%) HP:0000049 15 glandular hypospadias 58 30 Frequent (33%) Frequent (79-30%) HP:0000807 16 hypospadias 58 Frequent (79-30%) 17
[malacards.org]
[…] frequent (99-80%) HP:0005263 12 micrognathia 58 30 Frequent (33%) Frequent (79-30%) HP:0000347 13 nephrotic syndrome 58 30 Frequent (33%) Frequent (79-30%) HP:0000100 14 shawl
[malacards.org]
an abnormal fold of skin extending around the base of the penis (shawl scrotum), and/or misplacement of the urinary opening, such as on the underside of the penis (hypospadias
[rarediseases.org]
scrotum 0000049 Short attention span Poor attention span Problem paying attention [ more ] 0000736 Single transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic
[rarediseases.info.nih.gov]
Genitourinary Tract Male infants with RSTS may have abnormalities of the genitourinary tract including failure of one or both testes to descend into the scrotum (cryptorchidism
[rarediseases.org]
scrotum Short nose Broad foot High forehead Muscular hypotonia of the trunk Deep palmar crease Multiple lipomas Infantile muscular hypotonia Dextrocardia Flat occiput Narrow
[mendelian.co]
ORPHA:268810 Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Shawl scrotum
[mousephenotype.org]
Steppage gait High anterior hairline Atrophy/Degeneration affecting the brainstem Absent Achilles reflex Pontocerebellar atrophy Cone dysfunction syndrome Pendular nystagmus Shawl
[mendelian.co]
scrotum joint laxity syndrome Facial paralysis Facies unusual arthrogryposis advanced skeletal malformations Facio digito genital syndrome recessive form Facio skeletal genital
[academickids.com]
[…] syndrome Facial asymmetry temporal seizures Facial clefting corpus callosum agenesis Facial cleft Facial dysmorphism macrocephaly myopia Dandy–Walker type Facial dysmorphism shawl
[ipfs.io]
Face-Faci Faces syndrome Facial asymmetry temporal seizures Facial clefting corpus callosum agenesis Facial dysmorphism macrocephaly myopia Dandy Walker type Facial dysmorphism shawl
[academickids.com]
We report on two Italian brothers with facial clefting, hypertelorism, urogenital anomalies including micropenis, shawl scrotum, hearing loss, caudal appendage, and umbilical
[ncbi.nlm.nih.gov]
Abstract We report on two Italian brothers with facial clefting, hypertelorism, urogenital anomalies including micropenis, shawl scrotum, hearing loss, caudal appendage, and
[doi.org]
An affected boy was also reported by Reardon et al. (2001) with left renal agenesis, an enlarged and downwardly displaced right kidney, cryptorchidism and a shawl scrotum.
[owlapps.net]
' or 'shawl scrotum').
[ibis-birthdefects.org]
scrotum cryptorchidism inguinal herniation supernumerary ribs Genetics It commonly carries an X-linked inheritance.
[radiopaedia.org]
Males with this condition tend to have abnormalities of the genitals, including a wrapping of the scrotum around the penis (shawl scrotum) or undescended testes.
[diseaseinfosearch.org]
scrotum-joint laxity syndrome Fallot complex-intellectual disability-growth delay syndrome Familial Scheuermann disease Familial avascular necrosis of femoral head Familial
[se-atlas.de]
[…] syndrome FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome FGFR2-related bent bone dysplasia FRAXE intellectual disability Facial dysmorphism-shawl
[se-atlas.de]
scrotum laxity dysplasiaFacies digito formFacio Rippberger typeFacio thoraco myoclonus AFactor VII XII XIII tube cancerFallot severe adenomatous aortic lumbago band striatal
[borghesan.com]
scrotum-joint laxity syndrome Fallot complex-intellectual disability-growth delay syndrome Familial Scheuermann disease Familial avascular necrosis of femoral head Familial
[se-atlas.de]
[…] handsEsophageal syndromeEwing family tumorsEwing anetodermia EExostoses Exstrophy retinopathy germ stretchable Fabry diseaseFACES syndromeFacial temporal seizuresFacial agenesisFacial shawl
[borghesan.com]
PEDIATRIC UROLOGY Female counterpart of shawl scrotum in aarskog-scott syndrome Suzana G. Moraes; G. Guerra-Junior; A. T.
[scielo.br]
The diagnosis is difficult because a shawl scrotum is not uncommon.
[fdna.health]
Genital anomalies may include cryptorchidism, macroorchidism, shawl scrotum and, more rarely, hypospadias. Fertility is normal.
[orpha.net]
scrotum cryptorchidism inguinal herniation supernumerary ribs Pathology Genetics It commonly carries an X-linked inheritance.
[pacs.de]
Genital abnormalities in this syndrome include shawl scrotum, cryptorchidism and phimosis [4,5].
[peertechz.com]
[…] proximal interphalangeal joint laxity with concomitant flexion and restriction of movement of distal interphalangeal joints flat broad feet with bulbous toes genital anomalies shawl
[pacs.de]
scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects.
[orpha.net]
Shawl scrotum Overriding scrotum Superior margin of the scrotum superior to the base of the penis.
[rarediseases.oscar.ncsu.edu]
[…] thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl
[orpha.net]
This syndrome is characterized by short stature, shawl scrotum, facial abnormality, and clinodactyly.
[cjhr.org]
scrotum', camptodactyly, and the absence of heart pathology are more typical of Aarskeg syndrome and only lymphoedema is characteristic of Noonan Syndrome.
[semanticscholar.org]
At birth, he was noted to have brachydactyly and camptodactyly, abnormal feet and shawl scrotum with bilateral undescended testicles.
[nature.com]
The other male case presented with a shawled scrotum [1].
[cureus.com]
scrotum joint laxity syndrome Facial paralysis Facies unusual arthrogryposis advanced skeletal malformations Facio digito genital syndrome recessive form Facio skeletal genital
[bionity.com]
Face-Faci Faces syndrome Facial asymmetry temporal seizures Facial clefting corpus callosum agenesis Facial dysmorphism macrocephaly myopia Dandy Walker type Facial dysmorphism shawl
[bionity.com]
[…] syndrome Facial asymmetry temporal seizures Facial clefting corpus callosum agenesis Facial cleft Facial dysmorphism macrocephaly myopia Dandy–Walker type Facial dysmorphism shawl
[ipfs.io]
[…] syndrome * Facial asymmetry temporal seizures * Facial clefting corpus callosum agenesis * Facial dysmorphism macrocephaly myopia Dandy Walker type * Facial dysmorphism shawl
[enacademic.com]
Face-Faci Faces syndrome Facial asymmetry temporal seizures Facial clefting corpus callosum agenesis Facial dysmorphism macrocephaly myopia Dandy Walker type Facial dysmorphism shawl
[bionity.com]
Shawl scrotum and proximally placed anus were rarely seen.
[omim.org]
scrotum, facial dysmorphism Dup 12p Brain malformations (holonprosencephaly), cleft lip/palate, polydactyly, variable organ defects Trisomy 13 Chromosome 13 Relatively mild
[link.springer.com]
Aarskog Syndrome: X-linked disorder characterized by ocular hypertelorism, anteverted nostrils, broad upper lip, and peculiar penoscrotal relations (“saddlebag ” or “shawl
[accessanesthesiology.mhmedical.com]
Males with Seaver Cassidy syndrome may also experience an underdeveloped shawl scrotum and cryptorchidism.
[en.wikipedia.org]
Seaver Cassidy syndrome Other names Facial dysmorphism-shawl scrotum-joint laxity syndrome Seaver Cassidy syndrome is a very rare disorder characterized by certain facial,
[en.wikipedia.org]
scrotum joint laxity syndrome Facial paralysis Facies unusual arthrogryposis advanced skeletal malformations Facio digito genital syndrome recessive form Facio skeletal genital
[bionity.com]
Fabry disease FACES syndrome Facial asymetry temporal seizures Facial clefting corpus callosum agenesis Facial dysmorphism shawl scrotum joint laxity syndrome Facial ectodermal
[personalizedcause.com]
Face-Faci Faces syndrome Facial asymmetry temporal seizures Facial clefting corpus callosum agenesis Facial dysmorphism macrocephaly myopia Dandy Walker type Facial dysmorphism shawl
[bionity.com]
scrotum joint laxity syndrome Facial paralysis Facies unusual arthrogryposis advanced skeletal malformations Facio digito genital syndrome recessive form Facio skeletal genital
[bionity.com]
Fabry disease FACES syndrome Facial asymetry temporal seizures Facial clefting corpus callosum agenesis Facial dysmorphism shawl scrotum joint laxity syndrome Facial ectodermal
[personalizedcause.com]
Face-Faci Faces syndrome Facial asymmetry temporal seizures Facial clefting corpus callosum agenesis Facial dysmorphism macrocephaly myopia Dandy Walker type Facial dysmorphism shawl
[bionity.com]
scrotum joint laxity syndrome Facial paralysis Facies unusual arthrogryposis advanced skeletal malformations Facio digito genital syndrome recessive form Facio skeletal genital
[bionity.com]
Face-Faci Faces syndrome Facial asymmetry temporal seizures Facial clefting corpus callosum agenesis Facial dysmorphism macrocephaly myopia Dandy Walker type Facial dysmorphism shawl
[bionity.com]
scrotum joint laxity syndrome Facial paralysis Facies unusual arthrogryposis advanced skeletal malformations Facio digito genital syndrome recessive form Facio skeletal genital
[bionity.com]
Fabry disease FACES syndrome Facial asymetry temporal seizures Facial clefting corpus callosum agenesis Facial dysmorphism shawl scrotum joint laxity syndrome Facial ectodermal
[personalizedcause.com]
Face-Faci Faces syndrome Facial asymmetry temporal seizures Facial clefting corpus callosum agenesis Facial dysmorphism macrocephaly myopia Dandy Walker type Facial dysmorphism shawl
[bionity.com]
scrotum joint laxity syndrome Facial paralysis Facies unusual arthrogryposis advanced skeletal malformations Facio digito genital syndrome recessive form Facio skeletal genital
[bionity.com]
Fabry disease FACES syndrome Facial asymetry temporal seizures Facial clefting corpus callosum agenesis Facial dysmorphism shawl scrotum joint laxity syndrome Facial ectodermal
[personalizedcause.com]
Face-Faci Faces syndrome Facial asymmetry temporal seizures Facial clefting corpus callosum agenesis Facial dysmorphism macrocephaly myopia Dandy Walker type Facial dysmorphism shawl
[bionity.com]
scrotum, and polydactyly.
[cags.org.ae]
Hypospadias and shawl scrotum are present in all males. Acral manifestations include syndactyly of fingers, broad thumbs or halluces or preaxial polydactyly.
[checkorphan.org]
scrotum, and normal psychomotor development.
[cags.org.ae]
