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:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49


Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

High match THANATOPHORIC DYSPLASIA TYPE 2


Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

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Other less relevant matches:

High match MONOSOMY 13Q14


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.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

High match ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME


Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.

ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME Is also known as aeg syndrome|anophthalmia, clinical, with associated anomalies|anophthalmia-esophageal-genital syndrome|microphthalmia and esophageal atresia syndrome|mcops3|syndromic microphthalmia type 3

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANOPHTHALMIA/MICROPHTHALMIA-ESOPHAGEAL ATRESIA SYNDROME

High match SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE


Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type|srps iv|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type iv|beemer-langer syndrome|srps4

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

High match COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS


Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.

COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS Is also known as multiple pituitary hormone deficiencies, genetic forms|familial congenital hypopituitarism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED PITUITARY HORMONE DEFICIENCIES, GENETIC FORMS

High match MOSAIC VARIEGATED ANEUPLOIDY SYNDROME


Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME Is also known as warburton-anyane-yeboa syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME

High match OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME


Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

High match JACOBSEN SYNDROME


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 Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Hydrocephalus 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


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Epicanthus

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Wide nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears

Common Symptoms - More than 50% cases


Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases


Ventricular septal defect

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Patent ductus arteriosus

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Polyhydramnios Cataract Depressed nasal bridge Abnormal heart morphology High forehead Microphthalmia Short nose Macrocephaly Brachydactyly Hypertelorism Atrial septal defect Growth hormone deficiency Single transverse palmar crease Micrognathia Cognitive impairment Hypothyroidism Short neck Anteverted nares Iris coloboma Agenesis of corpus callosum Clinodactyly of the 5th finger Clinodactyly Dolichocephaly Abnormality of cardiovascular system morphology Intrauterine growth retardation Ptosis Ascites Dandy-Walker malformation Coloboma Open mouth Hydronephrosis Intestinal malrotation Intellectual disability, severe Long philtrum Hypoplasia of the corpus callosum Syndactyly Narrow chest Talipes equinovarus Flat face Cleft palate Hypogonadism Posteriorly rotated ears Sensorineural hearing impairment Patent foramen ovale Webbed neck Cryptorchidism Natal tooth Multicystic kidney dysplasia Flat occiput Hypotelorism Downslanted palpebral fissures Coarctation of aorta Hypoplastic left heart Omphalocele Broad forehead Cleft lip Median cleft lip and palate Thin upper lip vermilion Craniosynostosis Partial agenesis of the corpus callosum Midface retrusion High palate Prominent forehead Intellectual disability, mild

Rare Symptoms - Less than 30% cases


Failure to thrive Constipation Bulbous nose Scoliosis Duodenal atresia Atrioventricular canal defect Trigonocephaly Absent septum pellucidum Nephroblastoma Dilatation Finger clinodactyly Thin vermilion border Flexion contracture Abnormality of the dentition Pectus excavatum Retrognathia Camptodactyly Anal atresia Aortic valve stenosis Spina bifida Pyloric stenosis Ectopic anus Hip dislocation Hypospadias Osteolysis Microretrognathia Abnormality of the eye Cleft upper lip Low-set, posteriorly rotated ears Abnormality of the skeletal system Neoplasm Delayed cranial suture closure Depressed nasal ridge Wide intermamillary distance Apnea Ambiguous genitalia Deeply set eye Short toe Hypoglycemia Thoracic dysplasia Osteopenia Talipes Polydactyly Facial palsy Optic nerve hypoplasia Postnatal growth retardation Delayed eruption of teeth Delayed skeletal maturation Specific learning disability Abnormal vertebral morphology Hypogonadotrophic hypogonadism Chorioretinal coloboma Inguinal hernia Anophthalmia Missing ribs Anterior pituitary hypoplasia Long face Edema Small for gestational age Finger syndactyly Strabismus Short thorax Muscular hypotonia of the trunk Disproportionate short-limb short stature Median cleft lip Dental malocclusion Spastic tetraplegia Alobar holoprosencephaly Prominent nose Severe short stature Skeletal dysplasia Short ribs Respiratory insufficiency Fusion of the left and right thalami Metaphyseal irregularity Oral cleft Spasticity Everted lower lip vermilion Severe global developmental delay Optic atrophy Abnormality of the metaphysis Cerebral calcification Micropenis Hernia Delayed speech and language development Macrotia Protruding ear Smooth philtrum Increased nuchal translucency Increased susceptibility to fractures Fibular hypoplasia Visual field defect Anal stenosis Submucous cleft hard palate Overfolded helix Hyperostosis Aphasia Thickened calvaria Dysphasia Mixed hearing impairment Metaphyseal widening Prominent nasal bridge Tracheomalacia White forelock Rough bone trabeculation Flexion contracture of toe Asymmetry of the thorax Sclerosis of skull base Thoracolumbar kyphosis Otosclerosis Fibular aplasia Delayed closure of the anterior fontanelle Facial paralysis Ankylosis Large forehead Broad ribs Upslanted palpebral fissure Echolalia Misalignment of teeth Osteopetrosis Mutism Pierre-Robin sequence Nasal speech Aganglionic megacolon Cutaneous syndactyly Vaginal neoplasm Gastroesophageal reflux Brachycephaly Headache Myopathy Bilateral cleft lip Pain Depressed nasal tip Bilateral cleft lip and palate Premature chromatid separation Highly arched eyebrow Epidermoid cyst Abnormal aortic morphology Stomach cancer Rhabdomyosarcoma Subvalvular aortic stenosis Intestinal polyposis Abnormality of the upper limb Broad face Conductive hearing impairment Hyperlordosis Spina bifida occulta Lumbar hyperlordosis Narrow palate Spontaneous abortion Increased bone mineral density Joint contracture of the hand Dental crowding Large fontanelles Laryngotracheomalacia Thick lower lip vermilion Oligohydramnios Paralysis Narrow forehead Abnormality of the skin Bifid uvula Broad nasal tip High, narrow palate Thick vermilion border Arachnodactyly Ophthalmoplegia Microtia Broad clavicles Metaphyseal striations Large iliac wings Transposition of the great arteries Eyelid coloboma Chronic constipation Retinal dysplasia Diastasis recti Double outlet right ventricle Abnormal eyelash morphology Bipolar affective disorder Wheezing Slender finger Broad hallux phalanx Aplasia/Hypoplasia of the eyebrow Hammertoe Heart murmur Ectropion Hand polydactyly Schizophrenia Infantile muscular hypotonia Tachypnea Abnormal palate morphology Mitral stenosis Nuclear cataract Horseshoe kidney Macular hypoplasia Megakaryocyte dysplasia Congenital thrombocytopenia Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Clitoral hypoplasia Aplasia/Hypoplasia of the earlobes Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Nasolacrimal duct obstruction Broad columella Abnormal thrombocyte morphology Labial hypoplasia Azoospermia Bone marrow hypocellularity Craniofacial osteosclerosis Behavioral abnormality Intellectual disability, moderate Telecanthus Pes planus Osteoporosis Recurrent respiratory infections Thrombocytopenia Recurrent infections Cerebral atrophy Immunodeficiency Congestive heart failure Abnormal cardiac septum morphology Feeding difficulties Paranasal sinus hypoplasia Straight clavicles Acute lymphoblastic leukemia Osteopathia striata Facial hyperostosis High iliac wings Unilateral facial palsy Laryngeal web Feeding difficulties in infancy Attention deficit hyperactivity disorder Leukodystrophy Otitis media Sinusitis Short thumb Amblyopia Pachygyria Abnormal form of the vertebral bodies Pancytopenia Eczema Dehydration Microdontia Decreased antibody level in blood Skin rash Premature birth Postural instability Microcornea Bruising susceptibility Tachycardia Facial asymmetry Toe syndactyly Neurological speech impairment Leukemia Abnormality of the skull Aplasia/Hypoplasia of the corpus callosum Abnormal lung lobation Limitation of joint mobility Abnormality of the pinna Abnormality of the kidney Platyspondyly Splenomegaly Joint hyperflexibility Respiratory distress Micromelia Hepatomegaly Proximal esophageal atresia Pulmonary hypoplasia Cervical hemivertebrae Glandular hypospadias Hypothalamic hamartoma Multiple impacted teeth Absent gallbladder Vertebral hypoplasia Supernumerary ribs Decreased fetal movement Proptosis Short palm Periventricular leukomalacia Milia Single umbilical artery Microglossia Broad foot Protuberant abdomen Anencephaly Hypoplastic nipples Broad palm Short finger Bowing of the legs Short foot Preaxial polydactyly Short long bone Bilateral single transverse palmar creases Renal hypoplasia Long eyelashes Limb undergrowth Thick upper lip vermilion Kyphosis Renal cyst Butterfly vertebrae Gonadotropin deficiency Epileptic encephalopathy Supernumerary nipple Motor delay Cloverleaf skull Leukocoria Anteverted ears Retinoblastoma Thickened helices Abnormality of the gastrointestinal tract Aplasia/Hypoplasia of the thumb Severe short-limb dwarfism Hypoplastic ilia Short sacroiliac notch Deep philtrum Abnormal dermatoglyphics Lethal short-limbed short stature Wide anterior fontanel Small foramen magnum Small abnormally formed scapulae Thick eyebrow Wide-cupped costochondral junctions Small face Visual loss Rib fusion Acanthosis nigricans 11 pairs of ribs Sclerocornea Esophageal atresia Increased number of teeth Vertebral fusion Spastic diplegia Tracheoesophageal fistula Encephalocele Hemivertebrae Short femur Redundant skin Heterotopia Abnormality of the genital system Hypoplasia of penis Abnormality of neuronal migration Flared metaphysis Congenital cataract Occipital encephalocele Aplasia/Hypoplasia of the lungs Hypoplastic scapulae Preaxial foot polydactyly Abnormality of immune system physiology Anterior pituitary agenesis Corneal opacity Blepharophimosis Absent nasal septal cartilage Flat nasal alae Glaucoma Hyperreflexia Hypertonia Ectopic anterior pituitary gland Osteoporosis of vertebrae Muscular dystrophy Abnormality of secondary sexual hair Decreased cervical spine mobility Moon facies Abnormal prolactin level Pituitary dwarfism Aplasia/Hypoplasia of the breasts Septo-optic dysplasia Ectopic posterior pituitary Hypoplasia of the premaxilla Abnormality of skin pigmentation Absence of secondary sex characteristics Wide mouth Multiple cafe-au-lait spots Panhypopituitarism Colon cancer Aplasia/Hypoplasia of the cerebellum Bilateral microphthalmos Myelodysplasia Abnormality of vision Sleep apnea Aortic regurgitation Wide nose Single median maxillary incisor Midline defect of the nose Parietal bossing Cafe-au-lait spot Rhizomelia Short palpebral fissure Semilobar holoprosencephaly Sloping forehead Triangular face Decreased circulating ACTH level Pituitary hypothyroidism Bifid tongue Bowing of the arm Anxiety Short philtrum Pneumonia Malar flattening Fatigue Tetraplegia Absent internal genitalia Intrahepatic bile duct cysts Pancreatic dysplasia EEG abnormality Fetal ascites Periportal fibrosis Hamartoma of tongue Lobulated tongue Accessory spleen Horizontal ribs Pancreatic cysts Cystic renal dysplasia Atelectasis Jaundice Coarse facial features Concave nasal ridge Adrenal insufficiency Short attention span Aspiration pneumonia Severe postnatal growth retardation Hypopituitarism Prolonged neonatal jaundice Abnormality of digit Absent speech Encephalopathy Hoarse voice Hyperactivity Aspiration Myoclonus Amenorrhea Decreased testicular size Hypotension Macroglossia Infertility Delayed puberty Pulmonic stenosis Abnormality of the curvature of the vertebral column



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