Depressed nasal bridge, and Holoprosencephaly

Diseases related with Depressed nasal bridge and Holoprosencephaly

In the following list you will find some of the most common rare diseases related to Depressed nasal bridge and Holoprosencephaly that can help you solving undiagnosed cases.

Top matches:

A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.

Related symptoms:

  • Ptosis
  • Depressed nasal bridge
  • Hypotelorism
  • Median cleft lip
  • Depressed nasal tip


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 4; HPE4

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME Is also known as pallister-hall syndrome 2, formerly|culler-jones syndrome|phs2, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME

HOLOPROSENCEPHALY 3; HPE3 Is also known as hlp3

Related symptoms:

  • Microcephaly
  • Strabismus
  • Ptosis
  • Depressed nasal bridge
  • Malar flattening


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 3; HPE3

Other less relevant matches:

Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

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

Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

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

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

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

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

Top 5 symptoms//phenotypes associated to Depressed nasal bridge and Holoprosencephaly

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypotelorism Common - Between 50% and 80% cases
Microphthalmia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Depressed nasal bridge and Holoprosencephaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Ptosis Seizures Midface retrusion Growth delay Cleft palate Growth hormone deficiency Oral cleft Strabismus Malar flattening Agenesis of corpus callosum Hearing impairment Hypermetropia Microcornea Muscular hypotonia Frontal bossing Macrocephaly Hydrocephalus Short nose Polyhydramnios Anterior pituitary hypoplasia Abnormality of digit Epicanthus Abnormal facial shape Single median maxillary incisor Cleft lip Median cleft lip and palate Hypogonadism Polydactyly Cryptorchidism Micropenis Delayed skeletal maturation Semilobar holoprosencephaly Depressed nasal ridge

Rare Symptoms - Less than 30% cases

Craniosynostosis Ascites Downslanted palpebral fissures Anterior pituitary agenesis Cognitive impairment Narrow forehead Synophrys Panhypopituitarism Patent ductus arteriosus Absent septum pellucidum Generalized hypotonia Abnormality of the eye Severe global developmental delay Wide nasal bridge Atrial septal defect Respiratory insufficiency Telecanthus Aplasia/Hypoplasia of the corpus callosum Blepharophimosis Infertility Amenorrhea Ventriculomegaly Wide nose Macrotia Anteverted nares Low-set, posteriorly rotated ears Astigmatism Deeply set eye Median cleft lip Hypopituitarism Pulmonic stenosis Ectopic posterior pituitary Encephalocele Diabetes insipidus Sloping forehead Optic nerve hypoplasia Coloboma Postaxial polydactyly Cleft upper lip Intellectual disability, severe Exotropia Ventricular septal defect Intrauterine growth retardation Cyclopia Proboscis Increased nuchal translucency Hypertelorism High palate Abnormality of the skeletal system Hypothyroidism Coarctation of aorta Low-set ears Hypoplastic left heart Severe postnatal growth retardation Prolonged neonatal jaundice Delayed puberty Macroglossia Decreased testicular size Aspiration Hoarse voice Hypogonadotrophic hypogonadism Adrenal insufficiency Delayed cranial suture closure Hypotension Hypoplasia of the premaxilla Hypoglycemia Underdeveloped tragus Partial agenesis of the corpus callosum Bilateral cleft lip Skin tags Bilateral cleft lip and palate Abnormal cortical gyration Large forehead Wide cranial sutures Prominent antihelix Alobar holoprosencephaly Thoracic hemivertebrae Short attention span Single naris Jaundice Short hard palate Agenesis of incisor Asymmetric ventricles Diastolic heart murmur Sensorineural hearing impairment Fatigue Edema Constipation Pneumonia Prominent forehead Osteopenia Aspiration pneumonia Corneal opacity Concave nasal ridge Atrioventricular canal defect Rhizomelia Cafe-au-lait spot Multicystic kidney dysplasia Finger clinodactyly Osteolysis Microretrognathia Aortic regurgitation Sleep apnea Abnormality of vision Myelodysplasia Nephroblastoma Aplasia/Hypoplasia of the cerebellum Colon cancer Multiple cafe-au-lait spots Ambiguous genitalia Abnormality of immune system physiology Abnormal lung lobation Acute lymphoblastic leukemia Abnormality of the skull Duodenal atresia Abnormality of the upper limb Intestinal polyposis Subvalvular aortic stenosis Rhabdomyosarcoma Stomach cancer Abnormal aortic morphology Epidermoid cyst Premature chromatid separation Short palpebral fissure Dandy-Walker malformation Pituitary hypothyroidism Cataract Absence of secondary sex characteristics Decreased circulating ACTH level Septo-optic dysplasia Aplasia/Hypoplasia of the breasts Pituitary dwarfism Abnormal prolactin level Moon facies Decreased cervical spine mobility Abnormality of secondary sexual hair Osteoporosis of vertebrae Ectopic anterior pituitary gland Neoplasm Micrognathia Intellectual disability, mild Triangular face Abnormality of cardiovascular system morphology Clinodactyly Abnormal heart morphology Clinodactyly of the 5th finger Glaucoma High forehead Apnea Anophthalmia Small for gestational age Muscular dystrophy Dolichocephaly Abnormality of skin pigmentation Long face Bulbous nose Neurodevelopmental delay Hypospadias Heart murmur Epicanthus inversus Camptodactyly Congenital diaphragmatic hernia Primary amenorrhea Abnormality of the hair Narrow palpebral fissure Premature ovarian insufficiency Cupped ear Hypoplasia of the uterus Short finger Increased circulating gonadotropin level Congenital ptosis Unilateral ptosis Myopia Female infertility Premature atrial contractions Abnormality of the breast Abnormal lacrimal duct morphology Brachydactyly Kyphosis Severe short stature Proptosis Skeletal dysplasia Abnormality of the kidney Platyspondyly Hernia Feeding difficulties Joint hyperflexibility Hydronephrosis Depressed nasal tip Absent nasal septal cartilage Pain Abdominal pain Bilateral cryptorchidism High pitched voice Poor appetite Adrenocorticotropic hormone deficiency Microphallus Bilateral postaxial polydactyly Dilatation Hypoplasia of the fovea Nystagmus Abnormality of the nose Abdominal situs ambiguus Upslanted palpebral fissure Broad forehead Deep philtrum Trigonocephaly Absent thumb Facial cleft Scaphocephaly Small posterior fossa Exencephaly Narrow chest Micromelia Patent foramen ovale Hypernatremia Split hand Cutaneous syndactyly Poor head control Hypoplasia of the brainstem Non-midline cleft lip Ectrodactyly Aplasia/Hypoplasia of the radius Megalocornea Gonadotropin deficiency Central diabetes insipidus Long hallux Duplication of thumb phalanx Ectodermal dysplasia Hypoplasia of the frontal bone Lobar holoprosencephaly Respiratory distress Short philtrum Microtia Pulmonary hypoplasia Hypoplasia of the maxilla Dental malocclusion Postaxial hand polydactyly Preauricular skin tag Hemivertebrae Intellectual disability, profound Protruding ear Flat face Occipital encephalocele Limitation of joint mobility Decreased fetal movement Abnormality of the metaphysis Short ribs Acanthosis nigricans Disproportionate short-limb short stature Redundant skin Metaphyseal irregularity Abnormality of neuronal migration Flared metaphysis Short thorax Aplasia/Hypoplasia of the lungs Neonatal hypotonia Short femur Hypoplastic ilia Small face Cloverleaf skull Severe short-limb dwarfism Short sacroiliac notch Lethal short-limbed short stature Small foramen magnum Small abnormally formed scapulae Wide-cupped costochondral junctions Syndactyly Posteriorly rotated ears Vaginal neoplasm


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