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 that can help you solving undiagnosed cases.


Top matches:

High match HOLOPROSENCEPHALY 7; HPE7

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:

  • Autosomal dominant inheritance
  • Seizures
  • Global developmental delay
  • Pica
  • Microcephaly


SOURCES: DOID UMLS OMIM MESH MONDO

More info about HOLOPROSENCEPHALY 7; HPE7

High match THANATOPHORIC DYSPLASIA, TYPE II; TD2

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 II; TD2 Is also known as thanatophoric dysplasia with straight femurs and cloverleaf skull, thanatophoric dysplasia with kleeblattschaedel, cloverleaf skull with thanatophoric dwarfism;cloverleaf skull-micromelic bone dysplasia syndrome; td2; thanatophoric dwarfism type 2; thanatophoric dwarfism-cloverleaf skull syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia


SOURCES: UMLS OMIM SCTID ORPHANET

More info about THANATOPHORIC DYSPLASIA, TYPE II; TD2

High match CHROMOSOME 13q14 DELETION SYNDROME

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

CHROMOSOME 13q14 DELETION SYNDROME Is also known as chromosome 13q deletion syndrome;del(13)(q14); deletion 13q14

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Pica


SOURCES: MONDO UMLS MESH NCIT ORPHANET OMIM DOID

More info about CHROMOSOME 13q14 DELETION SYNDROME

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Other less relevant matches:

High match MICROPHTHALMIA, SYNDROMIC 3; MCOPS3

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).

MICROPHTHALMIA, SYNDROMIC 3; MCOPS3 Is also known as microphthalmia and esophageal atresia syndrome, anophthalmia, clinical, with associated anomalies, anophthalmia-esophageal-genital syndrome, aeg syndrome;mcops3; syndromic microphthalmia type 3

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: GARD MONDO UMLS OMIM SCTID ORPHANET

More info about MICROPHTHALMIA, SYNDROMIC 3; MCOPS3

High match PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1

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 ).

PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1 Is also known as ;familial congenital hypopituitarism; multiple pituitary hormone deficiencies, genetic forms

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Short stature


SOURCES: ORPHANET MONDO MESH UMLS GARD OMIM

More info about PITUITARY HORMONE DEFICIENCY, COMBINED, 1; CPHD1

High match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

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; MVA1 Is also known as mva syndrome;warburton-anyane-yeboa syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MONDO DOID ORPHANET OMIM SCTID UMLS

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

High match OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS

Osteopathia striata with cranial sclerosis is an X-linked dominant sclerosing bone dysplasia that presents in females with macrocephaly, cleft palate, mild learning disabilities, sclerosis of the long bones and skull, and longitudinal striations visible on radiographs of the long bones, pelvis, and scapulae (Jenkins et al., 2009). In males, the disorder is usually associated with fetal or neonatal lethality. Occasional surviving males have, in addition to hyperostosis, cardiac, intestinal, and genitourinary malformations. Osteosclerosis in the cranial and facial bones leads to disfigurement and to disability due to pressure on cranial nerves, e.g., deafness. Osteopathia striata is a frequent feature of focal dermal hypoplasia (FDH ).Although early reports of familial cases of this disorder appeared to suggest autosomal dominant inheritance (see, e.g., Horan and Beighton, 1978 and Konig et al., 1996), reappraisal of the literature (Behninger and Rott, 2000; Rott et al., 2003) and the finding of a molecular basis for the disorder by Jenkins et al. (2009) confirms that the inheritance pattern is X-linked dominant. Affected males who survive have a more severe phenotype than affected females, and sporadic male cases may result from somatic mosaicism (Behninger and Rott, 2000).

OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS Is also known as hyperostosis generalisata with striations;hyperostosis generalisata with striations; robinow-unger syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: GARD EFO UMLS DOID OMIM SCTID MONDO MESH ORPHANET

More info about OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS

High match JACOBSEN SYNDROME; JBS

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME; JBS Is also known as chromosome 11q deletion syndrome, partial 11q monosomy syndrome;del(11)(q23.3); del(11)(qter); distal deletion 11q; distal monosomy 11q; monosomy 11qter; telomeric deletion 11q

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: SCTID NCIT GARD OMIM MONDO ORPHANET

More info about JACOBSEN SYNDROME; JBS

Medium match HARTSFIELD SYNDROME; HRTFDS

Hartsfield syndrome classically refers to the triad of holoprosencephaly, ectrodactyly, and cleft/lip palate. Profound mental retardation is also present. Multiple other congenital anomalies usually occur (Vilain et al., 2009). The disorder involves midline and limb field defects (Zechi-Ceide et al., 2009).See also ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC ), which shows phenotypic similarities.

HARTSFIELD SYNDROME; HRTFDS Is also known as holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate;holoprosencephaly-ectrodactyly-cleft lip/palate syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: UMLS ORPHANET MESH OMIM MONDO

More info about HARTSFIELD SYNDROME; HRTFDS

Low match MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MONDO MESH OMIM UMLS

More info about MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE; MCPH7

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Wide nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Agenesis of corpus callosum

Common Symptoms - More than 50% cases


Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Autosomal dominant inheritance

Common Symptoms - More than 50% cases


Microphthalmia

Uncommon Symptoms - Between 30% and 50% cases


Pica

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus

Common Symptoms - More than 50% cases


Hydrocephalus

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Short nose Patent ductus arteriosus Low-set ears Ventriculomegaly Cryptorchidism Cataract Anteverted nares Midface retrusion Brachydactyly Ptosis Micrognathia Macrocephaly Ventricular septal defect Hypothyroidism Atrial septal defect Polyhydramnios Short neck Intrauterine growth retardation Clinodactyly of the 5th finger High forehead Abnormality of the genital system Hypospadias Iris coloboma Posteriorly rotated ears Cleft lip Abnormal heart morphology Micropenis Downslanted palpebral fissures Long philtrum Absent septum pellucidum Lobar holoprosencephaly Dolichocephaly Severe global developmental delay Hypoplastic left heart Abnormality of the eye Motor delay Intellectual disability, severe Coloboma Webbed neck Hypoplasia of the corpus callosum Strabismus Autosomal recessive inheritance Hypogonadism Hydronephrosis Postnatal growth retardation Abnormality of cardiovascular system morphology Prominent forehead Cleft palate Chorioretinal coloboma Tics High palate Protruding ear Broad forehead Hypotelorism Flat occiput Partial agenesis of the corpus callosum Multicystic kidney dysplasia Low-set, posteriorly rotated ears Coarctation of aorta

Rare Symptoms - Less than 30% cases


Amenorrhea Retrognathia Intestinal malrotation Duodenal atresia Immunodeficiency Specific learning disability Abnormality of digit Delayed eruption of teeth Cleft upper lip Ectopic anus Camptodactyly Anal atresia Facial palsy Craniosynostosis Scoliosis Aortic valve stenosis Failure to thrive Natal tooth Dilatation Abnormality of the skeletal system Flexion contracture Talipes equinovarus Intellectual disability, mild Sensorineural hearing impairment Pectus excavatum Retinal coloboma Trigonocephaly Abnormal renal morphology Nephroblastoma Aplasia/Hypoplasia of the corpus callosum Ascites Anterior pituitary hypoplasia Brachycephaly Feeding difficulties in infancy Growth hormone deficiency Hypoglycemia Osteopenia Depressed nasal ridge Apnea Constipation Malar flattening Nevus Small for gestational age Leukemia Telecanthus Delayed cranial suture closure Missing ribs Optic nerve hypoplasia Hypogonadotrophic hypogonadism Cutaneous syndactyly Wide nose Oligohydramnios Sloping forehead Pyloric stenosis Patent foramen ovale Hand polydactyly Spina bifida Osteolysis Abnormal vertebral morphology Neoplasm Syndactyly Cognitive impairment Skeletal dysplasia Alobar holoprosencephaly Sporadic Clinodactyly Abnormality of the metaphysis Hernia Inguinal hernia Delayed speech and language development Omphalocele Flat face Encephalocele Hypopituitarism Severe short stature Long hallux Respiratory insufficiency Nephrotic syndrome Finger syndactyly Hip dislocation Single transverse palmar crease Oxycephaly Median cleft lip and palate Increased nuchal translucency Thin upper lip vermilion Thin vermilion border Semilobar holoprosencephaly Smooth philtrum Open mouth Spontaneous abortion Prominent nose Dental malocclusion Upslanted palpebral fissure Narrow chest Non-midline cleft lip Dysphasia Increased susceptibility to fractures Anal stenosis Visual field defect Hypoplasia of the brainstem Overfolded helix Diabetes insipidus Poor head control Schizophrenia Bilateral camptodactyly Split hand Macular hypoplasia Osteopetrosis Pierre-Robin sequence Fibular hypoplasia Mixed hearing impairment Annular pancreas Tracheomalacia Congenital thrombocytopenia Aphasia Mutism Megakaryocyte dysplasia Submucous cleft hard palate Thickened calvaria Neonatal hypotonia Hyperostosis Metaphyseal widening Narrow palate Aplasia/Hypoplasia of the radius High, narrow palate Wide intermamillary distance Cerebral calcification Broad nasal tip Thick vermilion border Bifid uvula Abnormality of the skin Arachnodactyly Thick lower lip vermilion Long face Microtia Congenital onset Hyperlordosis Conductive hearing impairment Absent speech Gastroesophageal reflux Paralysis Lumbar hyperlordosis Megalocornea Increased bone mineral density Nasal speech Ectrodactyly Central diabetes insipidus Gonadotropin deficiency Hypernatremia Microretrognathia Spina bifida occulta Duplication of thumb phalanx Ataxia Aganglionic megacolon Hypoplasia of the frontal bone Joint contracture of the hand Dental crowding Large fontanelles X-linked dominant inheritance Narrow forehead Misalignment of teeth Abnormality of the head Echolalia Retinal dysplasia Abnormality of the eyelashes Talipes Facial asymmetry Abnormal cardiac septum morphology Toe syndactyly Ranula Attention deficit hyperactivity disorder Bipolar affective disorder Autoimmune thrombocytopenia Intellectual disability, moderate Pes planus Osteoporosis Recurrent infections Heart murmur Recurrent respiratory infections Thrombocytopenia Cerebral atrophy Microcornea Death in infancy Spasticity Short thumb Hammertoe Azoospermia Abnormal palate morphology Ectropion Aplasia/Hypoplasia of the eyebrow Leukodystrophy Amblyopia Short toe Pancytopenia Postural instability Pachygyria Abnormal form of the vertebral bodies Infantile muscular hypotonia Atrioventricular canal defect Abnormal retinal morphology Nuclear cataract Decreased antibody level in blood Premature birth Optic atrophy Paranasal sinus hypoplasia Broad ribs Asymmetry of the thorax Rough bone trabeculation Central hypothyroidism Clitoral hypoplasia U-Shaped upper lip vermilion Sclerosis of skull base Thoracolumbar kyphosis Flexion contracture of toe Abnormality of the anus Otosclerosis Toe clinodactyly Fibular aplasia Bone marrow hypocellularity Facial paralysis Thoracic dysplasia Large forehead White forelock Delayed closure of the anterior fontanelle Ankylosis Poroma Broad clavicles Metaphyseal striations Craniofacial osteosclerosis Straight clavicles Eyelid coloboma Broad hallux phalanx Nephrogenic rest Unilateral facial palsy Labial hypoplasia Osteopathia striata High iliac wings Diastasis recti Facial hyperostosis Aplasia/Hypoplasia of the earlobes Laryngeal web Giant platelets Nasolacrimal duct obstruction Laryngotracheomalacia Broad columella Large iliac wings Urethral stenosis Eczema Decreased cervical spine mobility Headache Finger clinodactyly Leukocoria Anteverted ears Retinoblastoma Thickened helices Abnormality of the gastrointestinal tract Aplasia/Hypoplasia of the thumb Supernumerary nipple Deep philtrum Visual loss Abnormal dermatoglyphics Wide anterior fontanel Everted lower lip vermilion Thick eyebrow Bulbous nose Prominent nasal bridge Wide mouth Muscular hypotonia of the trunk Short 5th toe Congenital cataract Small abnormally formed scapulae Sclerocornea Glandular hypospadias Hypothalamic hamartoma Absent gallbladder Butterfly vertebrae Supernumerary ribs Periventricular leukomalacia 11 pairs of ribs Rib fusion Esophageal atresia Hypoplasia of penis Increased number of teeth Vertebral fusion Anophthalmia Spastic diplegia Tracheoesophageal fistula Hemivertebrae Heterotopia Spastic tetraplegia Wide-cupped costochondral junctions Lethal short-limbed short stature Vertebral hypoplasia Single median maxillary incisor Kyphosis Flat nasal alae Fusion of the left and right thalami Absent nasal septal cartilage Hypoplasia of the premaxilla Parietal bossing Midline defect of the nose Bilateral microphthalmos Joint hyperflexibility Broad face Depressed nasal tip Panhypopituitarism Bilateral cleft lip Bilateral cleft lip and palate Median cleft lip Highly arched eyebrow Macrotia Proptosis Platyspondyly Small foramen magnum Cephalocele Short sacroiliac notch Cloverleaf skull Hypoplastic ilia Small face Aplasia/Hypoplasia of the lungs Neonatal death Occipital encephalocele Abnormality of neuronal migration Short thorax Micromelia Flared metaphysis Metaphyseal irregularity Redundant skin Acanthosis nigricans Short ribs Decreased fetal movement Limitation of joint mobility Abnormality of the kidney Multiple impacted teeth Cervical hemivertebrae Abnormality of the dentition Sarcoma Colon cancer Combined immunodeficiency Abnormality of immune system physiology Bifid scrotum Myelodysplasia Aplasia/Hypoplasia of the cerebellum Aortic regurgitation Abnormality of vision Multiple cafe-au-lait spots Hyperpigmentation of the skin Dandy-Walker malformation Intellectual disability, profound Generalized tonic-clonic seizures Primary amenorrhea Ambiguous genitalia Generalized myoclonic seizures Triangular face Abnormal lung lobation Acute lymphoblastic leukemia Renal cyst Rhabdomyosarcoma Pain Myopathy Hypodysplasia of the corpus callosum Vaginal neoplasm Premature chromatid separation Embryonal rhabdomyosarcoma Cerebral hypoplasia Triangular mouth Stomach cancer Abnormality of the skull Abnormal aortic morphology Short sternum Subvalvular aortic stenosis Mild microcephaly Intestinal polyposis Abnormality of the upper limb Acute leukemia Multiple renal cysts Abnormality of skin pigmentation Muscular dystrophy Proximal esophageal atresia Pulmonic stenosis Prolonged neonatal jaundice Adrenal insufficiency Aspiration Hoarse voice Hypotension Macroglossia Decreased testicular size Infertility Delayed puberty Short attention span Deeply set eye Jaundice Polydactyly Pneumonia Delayed skeletal maturation Fatigue Renal insufficiency Edema Severe postnatal growth retardation Pituitary hypothyroidism Corneal opacity Abnormality of secondary sexual hair Carcinoma Glaucoma Cerebellar hypoplasia Coma Nystagmus Ectopic anterior pituitary gland Anterior pituitary agenesis Osteoporosis of vertebrae Moon facies Concave nasal ridge Abnormal prolactin level Septo-optic dysplasia Aplasia/Hypoplasia of the breasts Decreased circulating ACTH level Ectopic posterior pituitary Pituitary dwarfism Aspiration pneumonia Absence of secondary sex characteristics Cortical gyral simplification



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Other signs and symptoms that you may find interesting

Frontal bossing and Round face, related diseases and genetic alterations