Frontal bossing, and Holoprosencephaly

Diseases related with Frontal bossing and Holoprosencephaly

In the following list you will find some of the most common rare diseases related to Frontal bossing and Holoprosencephaly

High match HOLOPROSENCEPHALY 7

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Flat nasal alae
  • Hypoplastic philtrum
  • Alobar holoprosencephaly
  • Fusion of the left and right thalami
  • Abnormality of thalamus morphology


SOURCES: OMIM

More info about HOLOPROSENCEPHALY 7

High match CHROMOSOME 13Q14 DELETION SYNDROME

The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (OMIM ), variable degrees of mental impairment, and characteristic facial features, including high forehead, prominent philtrum, and anteverted earlobes (summary by Caselli et al., 2007).

CHROMOSOME 13Q14 DELETION SYNDROME Is also known as chromosome 13q deletion syndrome;

Related symptoms:

  • Retinoblastoma
  • Anteverted ears
  • Thickened helices
  • Abnormality of the gastrointestinal tract
  • Trigonocephaly


SOURCES: ORPHANET OMIM

More info about CHROMOSOME 13Q14 DELETION SYNDROME

High match THANATOPHORIC DYSPLASIA TYPE 2

Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), whereas TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1 ) (Langer et al., 1987).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dysplasia with straight femurs and cloverleaf skull, thanatophoric dysplasia with kleeblattschaedel, cloverleaf skull with thanatophoric dwarfism;

Related symptoms:

  • Wide-cupped costochondral junctions
  • Lethal short-limbed short stature
  • Small abnormally formed scapulae
  • Small foramen magnum
  • Short sacroiliac notch


SOURCES: OMIM ORPHANET

More info about THANATOPHORIC DYSPLASIA TYPE 2

High match CHROMOSOME 1Q41-Q42 DELETION SYNDROME

CHROMOSOME 1Q41-Q42 DELETION SYNDROME Is also known as holoprosencephaly 10, included;hpe10, included;

Related symptoms:

  • Abnormality of the iris
  • Hyposegmentation of neutrophil nuclei
  • Morphological abnormality of the central nervous system
  • Abnormality of the genital system
  • Submucous cleft hard palate


SOURCES: ORPHANET OMIM

More info about CHROMOSOME 1Q41-Q42 DELETION SYNDROME

High match ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

Syndromic microphthalmia-3 (MCOPS3) is characterized by clinical anophthalmia or microphthalmia with or without defects of the optic nerve, optic chiasm, and optic tract. Extraocular abnormalities include brain anomalies, seizures, motor disability, neurocognitive delays, sensorineural hearing loss, and esophageal atresia. Hypoplasia of the anterior pituitary is another major complication, which frequently results in growth hormone deficiency; however, gonadotropin deficiency is likely to be the most consistent endocrinopathy in patients with SOX2 mutation (summary by Numakura et al., 2010).

ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME Is also known as microphthalmia and esophageal atresia syndrome, anophthalmia, clinical, with associated anomalies, anophthalmia-esophageal-genital syndrome, aeg syndrome;

Related symptoms:

  • Hypothalamic hamartoma
  • Butterfly vertebrae
  • Anterior pituitary hypoplasia
  • Vertebral hypoplasia
  • Supernumerary ribs


SOURCES: OMIM ORPHANET

More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

High match COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

Combined pituitary hormone deficiency (CPHD) in man denotes impaired production of growth hormone (GH ) and one or more of the other 5 anterior pituitary hormones. Mutations of the POU1F1 gene in the human and Pit1 in the mouse are responsible for pleiotropic deficiencies of GH, prolactin (PRL ), and thyroid-stimulating hormone (TSH; see {188540}), while the production of adrenocorticotrophic hormone (ACTH; see {176830}), luteinizing hormone (LH ), and follicle-stimulating hormone (FSH ) are preserved (Wu et al., 1998). In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen (Aarskog et al., 1997). Some cases present with severe mental retardation along with short stature (Radovick et al., 1992). Genetic Heterogeneity of Combined Pituitary Hormone DeficiencyCPHD2 (OMIM ), associated with hypogonadism, is caused by mutation in the PROP1 gene (OMIM ). CPHD3 (OMIM ), which is associated with rigid cervical spine and variable sensorineural deafness, is caused by mutation in the LHX3 gene (OMIM ). CPHD4 (OMIM ) is caused by mutation in the LHX4 gene (OMIM ). CPHD5 (see septooptic dysplasia, {182230}) is caused by mutation in the HESX1 gene (OMIM ). CPHD6 (OMIM ) is caused by mutation in the OTX2 gene (OMIM ).

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as ,

Related symptoms:

  • Decreased cervical spine mobility
  • Ectopic anterior pituitary gland
  • Anterior pituitary agenesis
  • Osteoporosis of vertebrae
  • Abnormality of secondary sexual hair


SOURCES: OMIM ORPHANET

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

High match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2

Mosaic variegated aneuploidy syndrome is an autosomal recessive disorder characterized by poor growth and variable phenotypic manifestations, such as facial dysmorphism and congenital heart defects, associated with mosaic aneuploidies resulting from defects in cell division (summary by Snape et al., 2011).See also MVA1 (OMIM ), caused by mutation in the BUB1B gene (OMIM ) on chromosome 15q15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2 Is also known as ;

Related symptoms:

  • Vaginal neoplasm
  • Acute lymphoblastic leukemia
  • Epidermal cyst
  • Stomach cancer
  • Rhabdomyosarcoma


SOURCES: ORPHANET OMIM

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2

High match HOLOPROSENCEPHALY 1

Holoprosencephaly (HPE) is the most common structural malformation of the human forebrain and occurs after failed or abbreviated midline cleavage of the developing brain during the third and fourth weeks of gestation. HPE occurs in up to 1 in 250 gestations, but only 1 in 8,000 live births (Lacbawan et al., 2009). Classically, 3 degrees of severity defined by the extent of brain malformation have been described. In the most severe form, 'alobar HPE,' there is a single ventricle and no interhemispheric fissure. The olfactory bulbs and tracts and the corpus callosum are typically absent. In 'semilobar HPE,' the most common type of HPE in neonates who survive, there is partial cortical separation with rudimentary cerebral hemispheres and a single ventricle. In 'lobar HPE,' the ventricles are separated, but there is incomplete frontal cortical separation (Corsello et al., 1990). An additional milder form, called 'middle interhemispheric variant' (MIHV) has also been delineated, in which the posterior frontal and parietal lobes are incompletely separated and the corpus callosum may be hypoplastic (Lacbawan et al., 2009). Finally, microforms of HPE include a single maxillary median incisor or hypotelorism without the typical brain malformations (summary by Mercier et al., 2011). Cohen (2001) discussed problems in the definition of holoprosencephaly, which can be viewed from 2 different perspectives: anatomic (fixed) and genetic (broad). When the main interest is description, the anatomic perspective is appropriate. In genetic perspective, a fixed definition of holoprosencephaly is not appropriate because the same mutational cause may result in either holoprosencephaly or some microform of holoprosencephaly. Cohen (2001) concluded that both fixed and broad definitions are equally valid and depend on context.Munke (1989) provided an extensive review of the etiology and pathogenesis of holoprosencephaly, emphasizing heterogeneity.See also schizencephaly (OMIM ), which may be part of the phenotypic spectrum of HPE. Genetic Heterogeneity of HoloprosencephalySeveral loci for holoprosencephaly have been mapped to specific chromosomal sites and the molecular defects in some cases of HPE have been identified. Holoprosencephaly-1 (HPE1) maps to chromosome 21q22. HPE2 (OMIM ), caused by mutation in the SIX3 gene (OMIM ), maps to 2p21. HPE3 (OMIM ), caused by mutation in the Sonic hedgehog gene (SHH ), maps to 7q36. HPE4 (OMIM ), caused by mutation in the TGIF gene (OMIM ), maps to 18p11. HPE5 (OMIM ), caused by mutation in the ZIC2 gene (OMIM ), maps to 13q32. HPE6 (OMIM ) maps to 2q37. HPE7 (OMIM ), caused by mutation in the PTCH1 gene (OMIM ), maps to 9q22. HPE8 (OMIM ) maps to 14q13. HPE9 (OMIM ), caused by mutation in the GLI2 gene (OMIM ), maps to 2q14. HPE10 (OMIM ) maps to 1q41-q42. HPE11 (OMIM ) is caused by mutation in the CDON gene (OMIM ) on chromosome 11q23-11q24.Wallis and Muenke (2000) gave an overview of mutations in holoprosencephaly. They indicated that at least 12 different loci had been associated with HPE.

HOLOPROSENCEPHALY 1 Is also known as holoprosencephaly, familial alobar, hpe, familial;hpec, arhinencephaly, cyclopia, demyer sequence;

Related symptoms:

  • Bilateral cleft lip
  • Alobar holoprosencephaly
  • Branchial anomaly
  • Absent nares
  • Aplasia/Hypoplasia involving the nose


SOURCES: OMIM ORPHANET

More info about HOLOPROSENCEPHALY 1

High match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 Is also known as mva syndrome

Related symptoms:

  • Hypodysplasia of the corpus callosum
  • Premature chromatid separation
  • Vaginal neoplasm
  • Combined immunodeficiency
  • Acute lymphoblastic leukemia


SOURCES: OMIM

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1

High match JACOBSEN SYNDROME

JACOBSEN SYNDROME Is also known as chromosome 11q deletion syndrome, partial 11q monosomy syndrome;

Related symptoms:

  • Broad columella
  • Annular pancreas
  • Labial hypoplasia
  • Macular hypoplasia
  • Long hallux


SOURCES: ORPHANET OMIM

More info about JACOBSEN SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Holoprosencephaly

Symptoms // Phenotype % Cases
Short stature 80%
Global developmental delay 80%
Muscular hypotonia 70%
Intellectual disability 70%
Microphthalmia 70%
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Other less frequent symptoms

Patients with Frontal bossing and Holoprosencephaly. may also develop some of the following symptoms:

70% Microcephaly 70% Seizures 60% Depressed nasal bridge 60% Autosomal dominant inheritance 60% Cryptorchidism 60% Hydrocephalus 50% Iris coloboma 50% Epicanthus 50% Hypertelorism 50% Agenesis of corpus callosum 50% Short nose 50% Anteverted nares 40% Depressed nasal ridge 40% Short neck 40% Brachydactyly 40% Intrauterine growth retardation 40% Hearing impairment 40% Cataract 40% Autosomal recessive inheritance 40% Low-set ears 40% Deeply set eye 40% Micrognathia 40% Ventriculomegaly 40% Atrial septal defect 40% Hypotelorism 40% Ventricular septal defect 40% Clinodactyly of the 5th finger 40% Growth delay 40% Cleft palate 40% Macrocephaly 40% Aplasia/Hypoplasia of the cerebellum 40% Upslanted palpebral fissure 30% Downslanted palpebral fissures 30% High forehead 30% Severe global developmental delay 30% Increased nuchal translucency 30% Hypospadias 30% Polyhydramnios 30% Micropenis 30% Low-set, posteriorly rotated ears 30% Abnormality of cardiovascular system morphology 30% Hypoplasia of penis 30% Strabismus 30% Feeding difficulties in infancy 30% Ptosis 30% Dandy-Walker malformation 30% Hypothyroidism 30% Multicystic kidney dysplasia 30% Flat occiput 30% Median cleft lip and palate 30% Duodenal atresia 30% Coarctation of aorta 30% Sporadic 30% Aplasia/Hypoplasia of the corpus callosum 30% Constipation 20% Scoliosis 20% Congenital diaphragmatic hernia 20% Hypogonadotrophic hypogonadism 20% Tracheoesophageal fistula 20% Anophthalmia 20% Optic nerve hypoplasia 20% Abnormal form of the vertebral bodies 20% Missing ribs 20% Esophageal atresia 20% Anterior pituitary hypoplasia 20% Multiple cafe-au-lait spots 20% Abnormality of vision 20% Abnormality of immune system physiology 20% Aortic regurgitation 20% Hand polydactyly 20% Osteolysis 20% Talipes equinovarus 20% Spasticity 20% Apnea 20% Optic atrophy 20% Ambiguous genitalia 20% Wide nose 20% Abnormality of skin pigmentation 20% Abnormality of the skull 20% Postnatal growth retardation 20% Subaortic stenosis 20% Small for gestational age 20% Midface retrusion 20% Glaucoma 20% Corneal opacity 20% Delayed skeletal maturation 20% Malar flattening 20% Triangular face 20% Nystagmus 20% Vaginal neoplasm 20% Acute lymphoblastic leukemia 20% Stomach cancer 20% Rhabdomyosarcoma 20% Intestinal polyposis 20% Nephroblastoma 20% Abnormality of the aorta 20% Hypoglycemia 20% Blepharophimosis 20% Sloping forehead 20% Colon cancer 20% Ascites 20% Abnormal lung lobation 20% Diabetes insipidus 20% Chorioretinal coloboma 20% Talipes 20% Sensorineural hearing impairment 20% Myelodysplasia 20% Anosmia 20% Muscular dystrophy 20% Single median maxillary incisor 20% Trigonocephaly 20% Long philtrum 20% Dolichocephaly 20% Joint hyperflexibility 20% Depressed nasal tip 20% Patent ductus arteriosus 20% Cognitive impairment 20% Panhypopituitarism 20% Respiratory insufficiency 20% Wide nasal bridge 20% Aplasia/Hypoplasia of the lungs 20% Omphalocele 20% Deep philtrum 20% Hypoplasia of the corpus callosum 20% Abnormality of neuronal migration 20% Webbed neck 20% Finger syndactyly 20% Encephalocele 20% Macrotia 20% Alobar holoprosencephaly 20% Failure to thrive 10% Abnormality of the eye 10% Intellectual disability, profound 10% Long face 10% Clinodactyly 10% Bone marrow hypocellularity 10% Abnormality of the eyelashes 10% Spina bifida 10% Ectropion 10% Intellectual disability, mild 10% Hypoplastic left heart 10% Schizophrenia 10% Bilateral cleft lip 10% Broad hallux phalanx 10% Branchial anomaly 10% Absent nares 10% Aplasia/Hypoplasia involving the nose 10% Spinal cord tumor 10% Intestinal atresia 10% Aplasia/Hypoplasia of the eyebrow 10% Abnormality of the palate 10% Amblyopia 10% Attention deficit hyperactivity disorder 10% Inguinal hernia 10% Recurrent respiratory infections 10% Thrombocytopenia 10% Flexion contracture 10% Cerebral atrophy 10% Hydronephrosis 10% Telecanthus 10% Pes planus 10% Toe syndactyly 10% Death in infancy 10% Facial asymmetry 10% Pyloric stenosis 10% Hip dislocation 10% Premature birth 10% Smooth philtrum 10% Microcornea 10% Eczema 10% Neoplasm 10% Ectopic anus 10% Short toe 10% Intestinal malrotation 10% Pachygyria 10% Aortic valve stenosis 10% Cyclopia 10% Abnormality of nervous system morphology 10% Spinal dysraphism 10% Posteriorly rotated ears 10% Macular hypoplasia 10% Synophrys 10% Labial hypoplasia 10% Annular pancreas 10% Diabetes mellitus 10% Proteinuria 10% Arrhythmia 10% Gastroesophageal reflux 10% Broad columella 10% Dystonia 10% Abnormal facial shape 10% Brachycephaly 10% Muscle weakness 10% Long hallux 10% Cerebellar hypoplasia 10% Generalized tonic-clonic seizures 10% Generalized hypotonia 10% Hypodysplasia of the corpus callosum 10% Premature chromatid separation 10% Combined immunodeficiency 10% Oligohydramnios 10% Generalized myoclonic seizures 10% Renal cyst 10% Triangular mouth 10% Short sternum 10% Leukemia 10% Thick eyebrow 10% Clitoral hypoplasia 10% Abnormality of the pulmonary valve 10% Failure to thrive in infancy 10% Hyposmia 10% Broad philtrum 10% Abnormality of the spleen 10% Bifid scrotum 10% Adrenal hypoplasia 10% Anterior hypopituitarism 10% Facial cleft 10% Median cleft lip 10% Hypoplasia of the zygomatic bone 10% Abnormality of the antihelix 10% Abnormality of the urinary system 10% External ear malformation 10% Hyponatremia 10% Highly arched eyebrow 10% Reduced number of teeth 10% Cleft eyelid 10% Aplasia/Hypoplasia of the earlobes 10% Infantile muscular hypotonia 10% Bipolar affective disorder 10% Nasolacrimal duct obstruction 10% Abnormality of the anus 10% Toe clinodactyly 10% Chorea 10% U-Shaped upper lip vermilion 10% Retinopathy 10% Choanal atresia 10% Tetralogy of Fallot 10% Cerebral hypoplasia 10% Flat nasal alae 10% Abnormality of the skeletal system 10% Limitation of joint mobility 10% Hypoplastic ilia 10% Neonatal death 10% Flared metaphysis 10% Metaphyseal irregularity 10% Redundant skin 10% Short thorax 10% Abnormality of the kidney 10% Acanthosis nigricans 10% Short ribs 10% Decreased fetal movement 10% Skeletal dysplasia 10% Abnormality of the metaphysis 10% Flat face 10% Narrow chest 10% Small face 10% Micromelia 10% Platyspondyly 10% Proptosis 10% Kyphosis 10% Abnormality of the iris 10% Hyposegmentation of neutrophil nuclei 10% Morphological abnormality of the central nervous system 10% Abnormality of the genital system 10% Submucous cleft hard palate 10% Vertebral segmentation defect 10% Thick vermilion border 10% Small nail 10% Hypergonadotropic hypogonadism 10% Preauricular skin tag 10% Cloverleaf skull 10% Short sacroiliac notch 10% Underdeveloped nasal alae 10% Anteverted ears 10% Fusion of the left and right thalami 10% Abnormality of thalamus morphology 10% Absent nasal septal cartilage 10% Semilobar holoprosencephaly 10% Hypoplasia of the premaxilla 10% Midline defect of the nose 10% Parietal bossing 10% Bilateral cleft lip and palate 10% Bilateral microphthalmos 10% Broad face 10% Dental malocclusion 10% Hypoplasia of the maxilla 10% Retinoblastoma 10% Thickened helices 10% Small foramen magnum 10% Abnormality of the gastrointestinal tract 10% Aplasia/Hypoplasia of the thumb 10% Abnormal dermatoglyphics 10% Muscular hypotonia of the trunk 10% Bulbous nose 10% Broad forehead 10% Everted lower lip vermilion 10% Prominent nasal bridge 10% Thin upper lip vermilion 10% Protruding ear 10% Delayed speech and language development 10% Wide-cupped costochondral junctions 10% Lethal short-limbed short stature 10% Small abnormally formed scapulae 10% Broad nasal tip 10% Abnormality of the face 10% Short palpebral fissure 10% Sleep disturbance 10% Severe postnatal growth retardation 10% Prolonged neonatal jaundice 10% Abnormality of the hypothalamus-pituitary axis 10% Absent septum pellucidum 10% Amenorrhea 10% Polydactyly 10% Polydipsia 10% Hypoplastic philtrum 10% Delayed cranial suture closure 10% Infertility 10% Hemiplegia/hemiparesis 10% Hypotension 10% Hypohidrosis 10% Macroglossia 10% Absence of secondary sex characteristics 10% Decreased testicular size 10% Autism 10% Delayed puberty 10% Dry skin 10% Prominent forehead 10% Osteopenia 10% Obesity 10% Fatigue 10% Visual impairment 10% Epidermal cyst 10% Abnormality of the upper limb 10% Sleep apnea 10% Cafe-au-lait spot 10% Growth hormone deficiency 10% Pituitary hypothyroidism 10% Maternal diabetes 10% Pulmonary hypoplasia 10% Abnormality of the vertebrae 10% Neonatal hypotonia 10% Microtia 10% Cleft upper lip 10% Behavioral abnormality 10% Coarse facial features 10% Hypothalamic hamartoma 10% Butterfly vertebrae 10% Vertebral hypoplasia 10% Supernumerary ribs 10% 11 pairs of ribs 10% Rib fusion 10% Sclerocornea 10% Spastic diplegia 10% Vertebral fusion 10% Hemivertebrae 10% Decreased circulating ACTH level 10% Coloboma 10% Spastic tetraplegia 10% Visual loss 10% Specific learning disability 10% Decreased cervical spine mobility 10% Ectopic anterior pituitary gland 10% Anterior pituitary agenesis 10% Osteoporosis of vertebrae 10% Abnormality of secondary sexual hair 10% Abnormal prolactin level 10% Septo-optic dysplasia 10% Ectopic posterior pituitary 10% Aplasia/Hypoplasia of the breasts 10% Pituitary dwarfism 10% Pectus excavatum

Other symptoms that you may find interesting

Frontal bossing and Round face Diseases and genetic alterations