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. Browse more diseases related to these clinical features.

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
  • Alobar holoprosencephaly
  • Fusion of the left and right thalami
  • Absent nasal septal cartilage
  • Semilobar holoprosencephaly


SOURCES: OMIM

More info about HOLOPROSENCEPHALY 7

Browse more diseases

High match MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL

MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL Is also known as ;

Related symptoms:

  • Increased nuchal translucency
  • Cloverleaf skull
  • Aplasia/Hypoplasia of the lungs
  • Abnormality of neuronal migration
  • Redundant skin


SOURCES: ORPHANET OMIM

More info about MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL

Browse more diseases

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
  • Abnormality of the gastrointestinal tract
  • Thickened helices
  • Aplasia/Hypoplasia of the thumb


SOURCES: ORPHANET OMIM

More info about CHROMOSOME 13Q14 DELETION SYNDROME

Browse more diseases

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 foramen magnum
  • Small abnormally formed scapulae
  • Short sacroiliac notch


SOURCES: OMIM

More info about THANATOPHORIC DYSPLASIA TYPE 2

Browse more diseases

High match CHROMOSOME 1Q41-Q42 DELETION SYNDROME

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

Related symptoms:

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


SOURCES: OMIM ORPHANET

More info about CHROMOSOME 1Q41-Q42 DELETION SYNDROME

Browse more diseases

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: ORPHANET OMIM

More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

Browse more diseases

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:

  • Ectopic anterior pituitary gland
  • Decreased cervical spine mobility
  • Anterior pituitary agenesis
  • Abnormal prolactin level
  • Abnormality of secondary sexual hair


SOURCES: ORPHANET OMIM

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

Browse more diseases

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
  • Vaginal neoplasm
  • Premature chromatid separation
  • Combined immunodeficiency
  • Acute lymphoblastic leukemia


SOURCES: ORPHANET OMIM

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1

Browse more diseases

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:

  • Ethmocephaly
  • Bilateral cleft lip
  • Alobar holoprosencephaly
  • Aplasia of the nose
  • Absent nares


SOURCES: ORPHANET OMIM

More info about HOLOPROSENCEPHALY 1

Browse more diseases

High match JACOBSEN SYNDROME

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

Related symptoms:

  • Annular pancreas
  • Macular hypoplasia
  • Labial hypoplasia
  • Clitoral hypoplasia
  • Broad columella


SOURCES: OMIM ORPHANET

More info about JACOBSEN SYNDROME

Browse more diseases

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

Symptoms // Phenotype % Cases
Short stature 90%
Seizures 80%
Hydrocephalus 70%
Intellectual disability 70%
Global developmental delay 70%
Try adding any of this symptoms in our app

Other less frequent symptoms

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

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

Other symptoms that you may find interesting

Frontal bossing and Round face Diseases and genetic alterations