Lethal in Males: Causes & Reasons

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Possible Causes for Lethal in Males

Gorlin-Psaume Syndrome

Papillon-Leage and Psaume syndrome –> orodigitofacial dysostosis (Science: syndrome) An inherited syndrome, lethal in males, with varying combinations of defects of the oral [biologyonline.com]

From Biology-Online Dictionary | Biology-Online Dictionary Papillon-Leage and Psaume syndrome --> orodigitofacial dysostosis (Science: syndrome) An inherited syndrome, lethal [biology-online.org]

[…] in males, with varying combinations of defects of the oral cavity, face, and hands, including lobulated or bifid tongue, cleft or pseudocleft palate, tongue tumours, missing [biology-online.org]

Bloch Sulzberger Syndrome

A clear X-linked dominant transmission was demonstrated, lethal in males. [ncbi.nlm.nih.gov]

The disease is usually seen in females, as it is an X-linked dominantly inherited disease which is lethal in males. [ncbi.nlm.nih.gov]

Incontinentia pigmenti(IP), so called Block-Sulzberger syndrome is a rare genodermatosis that occurs almost in female infant; usually lethal in males, X-linked dominantly [journal.kapd.org]

Aicardi's Syndrome

This family history may support the theory that there is a factor, lethal for males, involved in the genetic transmission of Aicardi's syndrome. [ncbi.nlm.nih.gov]

Both males had XXY genotypes, which further supports an X-linked male lethal genetic substrate. [emedicine.medscape.com]

Two are known to have been male, but the other gender is unknown. [ncbi.nlm.nih.gov]

Coxoauricular Syndrome

X-linked dominant inherited diseases with lethality in hemizygous males Wettke-Schäfer, R.; Kantner, G. [eurekamag.com]

If the latter hypothesis is correct the mothers miscarriage may have been a lethally affected male. ACKNOWLEDGMENT We are grateful to Dr. John M. [docslide.com.br]

X-linked Dominant Inherited Diseases With Lethality In Hemizygous Males نويسند‌گان: [ Roswitha Wettke-schäfer ] - Institut fÃ¼r Anthropologie und Humangenetik, UniversitÃ¤ [scipers.com]

Boomerang Dysplasia

male phenotype of Melnick-Needles syndrome. [ncbi.nlm.nih.gov]

male phenotype of Melnick‐Needles syndrome. [doi.org]

male phenotype of Melnick-Needles syndrome"]. [dictionnaire.sensagent.leparisien.fr]

Osteopathia Striata

This condition is usually lethal in males. OBJECTIVE/PATIENT: Our aim was to determine the underlying genetic cause in a 37-yr-old male with this condition. [ncbi.nlm.nih.gov]

[…] in males that has material_basis_in mutation in the AMER1 gene on chromosome Xq11. https://www.ncbi.nlm.nih.gov/pubmed/19079258 References: MESH:C536053 OMIM:300373 ORDO: [zfin.org]

A correlation was suggested between the position of the mutation and male lethality. [scinapse.io]

Autosomal Dominant Chondrodysplasia Punctata

X-linked dominant mutations can have more severe effects in females and may be lethal in males. [encyclopedia.com]

The disorder described here is an X-linked dominant disorder with lethality in males. [disorders.eyes.arizona.edu]

X-linked dominant form, also known as Conradi-Hunermann Syndrome, is lethal to males in early gestation. [tajpharma.com]

Severe Neonatal-Onset Encephalopathy with Microcephaly

Table 4 Clinical findings in males with a MECP2 mutation presenting with severe, non-fatal encephalopathy Why most MECP2 mutations in males were lethal in the neonatal period [jmg.bmj.com]

Although it was first thought that MECP2 mutations causing Rett syndrome were lethal in males, later reports identified a severe neonatal encephalopathy in surviving male [ncbi.nlm.nih.gov]

As males are hemizygous for MECP2 mutations (single X chromosome, no MECP2 produced), it is usually lethal in males. [iamg.in]

Beta-Propeller Protein-Associated Neurodegeneration

A clear female predominance supports an X-linked dominant pattern of inheritance with proposed lethality for germline variants in hemizygous males. [nature.com]

There have been a few reported cases of males with the same condition, but in general BPAN is thought to be lethal in males. 1 Neuroimaging in BPAN patients reveal striking [pediatrics.aappublications.org]

The majority are females, indicating the mutations are new, or de novo, and suggesting that mutations may be lethal in most males before birth. [nbiadisorders.org]

Mohr Syndrome

These findings were interpreted as evidence for X-linked dominance with prenatal lethality in males. [medlink.com]

These features, along with the fact that OFD I is an X-linked dominant condition with lethal effects in males, point more toward this case being OFD II. [ijdr.in]

The first reported cases were of females, an observation confirmed in large pedigrees containing fewer liveborn males than expected. [medlink.com]

Orofaciodigital Syndrome

Clinically, OFDI is seen only in females since it is lethal in males. [cags.org.ae]

Until recently, OFDS1 was presumed to be lethal in males with a severe phenotype in heterozygous females. [nature.com]

Orofaciodigital syndrome type 1 is an X-linked dominant condition which is lethal for males at the embryo stage. [dermnetnz.org]

Microphthalmia with Linear Skin Defects Syndrome

MLS is a rare X-linked dominant male-lethal disease characterized by unilateral or bilateral microphthalmia and linear skin defects in affected females, and in utero lethality [en.wikipedia.org]

LSDMCA1 main features are unilateral or bilateral microphthalmia, linear skin defects in affected females, and in utero lethality for males. [malacards.org]

[…] for affected males. [en.wikipedia.org]

Microphthalmia Type Lenz

Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. [ncbi.nlm.nih.gov]

Orofaciodigital Syndrome Type 7

However, fetal PKD has been reported only in a lethal homozygous male. Our observation expands our knowledge about the phenotypic variations of PKD in OFD I. [pubmed.ncbi.nlm.nih.gov]

Hegde and Saurabh Joshi Abstract: Oral-facial-digital syndrome type 1 (OFD1) is characterized by an X-linked dominant mode of inheritance with lethality in males. [scialert.net]

Until recently, OFDS1 was presumed to be lethal in males with a severe phenotype in heterozygous females. [nature.com]

Hunermann-Conradi Syndrome

While typically lethal in males, females with CDPX2 generally manifest by infancy or childhood with variable features including congenital ichthyosiform erythroderma, chondrodysplasia [jhu.pure.elsevier.com]

[…] in males; reports of surviving males both with/without 47, XXY Age at Presentation Birth Pathogenesis Mutation in the EBP gene or 3P hydroxysteroid A I_A7_ isomerase leads [cram.com]

Hunermann Happle syndrome Inheritance X linked dominant; Emopamil binging protein (EBP) gene on Xp11 Prenatal Ultrasound evaluation of long bones Incidence Rare; usually lethal [cram.com]

Joubert Syndrome Type 22

Clinically, OFDI is seen only in females since it is lethal in males. [cags.org.ae]

[…] in males. [iths.pure.elsevier.com]

Until recently, OFDS1 was presumed to be lethal in males with a severe phenotype in heterozygous females. [nature.com]

Joubert Syndrome Type 1

The most common is orofaciodigital syndrome I (OFD1 syndrome, MIM 311200), which is a male-lethal X-linked dominant disease [4]. [hindawi.com]

Mutations located at the upstream of exon 16 almost are lethal for males and cause OFD1 syndrome in females, but truncated OFD1 mutations at the downstream of exon 17 all [hindawi.com]

The majority of the OFD1 mutations were associated with OFD1 syndrome, which is a male-lethal X-linked dominant disease characterized by malformations of the face, oral cavity [hindawi.com]

Landy-Donnai Syndrome

The disease is usually seen in females, as it is an X-linked dominantly inherited disease which is lethal in males. [karger.com]

IP appears almost exclusively in females and is usually lethal in males[3, 4]. [ojrd.biomedcentral.com]

is usually lethal before birth. [nfed.org]

Rhizomelic Chondrodysplasia Punctata Type 1

X-linked dominant mutations can have more severe effects in females and may be lethal in males. [encyclopedia.com]

X- linked dominant type : Lethal in males. Shortening of long bones. Joint contactures. Scoliosis. Flat nasal bridge. Congenital ichthyosiform erythroderma. [fetalultrasound.com]

In most cases it is lethal in males. [webdesignpro09.info]

Oral-Facial-Digital Syndrome Type 6

Until recently, OFDS1 was presumed to be lethal in males with a severe phenotype in heterozygous females. [nature.com]

ABSTRACT Oral-facial-digital syndrome type 1 (OFD1; OMIM #311200) is a developmental disorder transmitted as an X-linked dominant condition with embryonic male lethality. [pesquisa.bvsalud.org]

A lack of this protein is usually lethal very early in development, so very few males are born with oral-facial-digital syndrome type I. [ghr.nlm.nih.gov]

Chondrodysplasia Punctata

X-linked dominant mutations can have more severe effects in females and may be lethal in males. [encyclopedia.com]

The disease predominantly affects females and is severe or even lethal in males. [orpha.net]

This type predominantly affects women and is usually lethal in males, generally resulting in miscarriage of male fetuses. [encyclopedia.com]

Craniosynostosis with Ectopia Lentis

Inheritance of the syndrome may be autosomal dominant, possibly due to a new mutation, autosomal recessive, or X-linked with male lethality. [semanticscholar.org]

Inheritance of the syndrome may be autosomal dominant, possibly due to a new mutation, autosomal recessive, or X-linked with male lethality. Am. J. Med. [onlinelibrary.wiley.com]

Meckel Syndrome Type 11

Oral-facial-digital syndrome type I (OFD1) is usually lethal for males during gestation and predominantly affects females. [centogene.com]

Piepkorn Dysplasia

"Giant-cell chondrocytes in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia". [en.wikipedia.org]

[Expression error: Missing operand for > "Giant-cell chondrocytes in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia [dictionnaire.sensagent.leparisien.fr]

Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia. [jmg.bmj.com]

Exudative Vitreoretinopathy Type 4

In contrast to FEVR, neovascularization and tractional membranes are not usually seen.[55] Incontinentia pigmenti - X-linked dominant and lethal in males. [eyewiki.aao.org]

[…] disease - In contrast to FEVR, patients can have microphthalmia, corneal opacification, developmental delay and deafness. [48] Coats’ disease - Usually unilateral and with a male [eyewiki.aao.org]

X-Linked Dominant Chondrodysplasia Type Chassaing-Lacombe

The disease is severe and probably lethal in males, the clinical picture in females is less severe. [ncbi.nlm.nih.gov]

[…] in males. [dentisty.org]

CDPX2 arises almost exclusively in females and is usually lethal in males. [mendelian.co]

HNRNPH2-related Disorder

[…] in males. [onlinelibrary.wiley.com]

Mutations in HNRNPH2 were also thought to be embryonically lethal in males. [tgen.org]

A gain-of-function effect was proposed for the variant and it was thought to be lethal in males as no surviving males were identified. [meta.org]

Joubert Syndrome Type 16

The most common is orofaciodigital syndrome I (OFD1 syndrome, MIM 311200), which is a male-lethal X-linked dominant disease [4]. [hindawi.com]

Mutations located at the upstream of exon 16 almost are lethal for males and cause OFD1 syndrome in females, but truncated OFD1 mutations at the downstream of exon 17 all [hindawi.com]

The majority of the OFD1 mutations were associated with OFD1 syndrome, which is a male-lethal X-linked dominant disease characterized by malformations of the face, oral cavity [hindawi.com]

Rhizomelic Chondrodysplasia Punctata Type 2

This X-linked dominant disorder is typically lethal in hemizygous males. [humpath.com]

In most cases it is lethal in males. [webdesignpro09.info]

CDPX2 is inherited in an X-linked manner with early gestational male lethality. [ncbi.nlm.nih.gov]

Simpson Dysmorphia Syndrome

The severity varies from very mild forms in carrier females to infantile lethal forms in affected males. [rarediseases.info.nih.gov]

The infantile lethal form of SGBS is sometimes known as SGBS type 2. [1] [2] People with SGBS typically have distinctive facial features, including a large distance between [rarediseases.info.nih.gov]