Depressed nasal bridge, and Hypotelorism

Diseases related with Depressed nasal bridge and Hypotelorism

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


Top matches:

High match HOLOPROSENCEPHALY 4; HPE4


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

High match HOLOPROSENCEPHALY 3; HPE3


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

High match DIFFUSE CEREBRAL AND CEREBELLAR ATROPHY-INTRACTABLE SEIZURES-PROGRESSIVE MICROCEPHALY SYNDROME


Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome is a rare, genetic, central nervous system malformation syndrome characterized by congenital, progressive microcephaly, neonatal to infancy-onset of severe, intractable seizures, and diffuse cerebral cortex and cerebellar vermis atrophy with mild cerebellar hemisphere atrophy, associated with profound global developmental delay. Hypotonia or hypertonia with brisk reflexes, variable dysmorphic facial features, ophthalmological signs (cortical visual impairment, nystagmus, eye deviation) and episodes of sudden extreme agitation caused by severe illness may also be associated.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about DIFFUSE CEREBRAL AND CEREBELLAR ATROPHY-INTRACTABLE SEIZURES-PROGRESSIVE MICROCEPHALY SYNDROME

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Other less relevant matches:

High match POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME


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

High match HOLOPROSENCEPHALY 5; HPE5


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

High match AMYOTROPHY, HEREDITARY NEURALGIC; HNA


Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

High match ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS


ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

High match HARTSFIELD SYNDROME


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

High match HOLOPROSENCEPHALY 9; HPE9


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

High match X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY


Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).

X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY Is also known as x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Ptosis Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Holoprosencephaly Low-set ears Micropenis Hypermetropia Posteriorly rotated ears Respiratory distress Abnormal facial shape Oral cleft Intellectual disability Short stature Midface retrusion Microphthalmia Cleft lip Postaxial polydactyly Epicanthus Hypertelorism Narrow forehead Macrocephaly Low-set, posteriorly rotated ears Cryptorchidism Hydrocephalus Upslanted palpebral fissure Wide nasal bridge Strabismus Ventriculomegaly Semilobar holoprosencephaly Generalized hypotonia Astigmatism Single median maxillary incisor Polydactyly

Rare Symptoms - Less than 30% cases


Dandy-Walker malformation Cerebellar hypoplasia Downslanted palpebral fissures Cleft upper lip Cataract Aplasia/Hypoplasia of the corpus callosum Growth hormone deficiency Diabetes insipidus Panhypopituitarism Anterior pituitary hypoplasia Flexion contracture Bifid uvula Syndactyly Abnormality of the skeletal system Anteverted nares Edema Abnormal cortical gyration Agenesis of corpus callosum Short nose Hypoplasia of the brainstem Macrotia Cutaneous syndactyly Abnormality of digit Facial asymmetry High palate Hypoplasia of the corpus callosum Median cleft lip and palate Coloboma Proboscis Cyclopia Hydronephrosis Malar flattening Sloping forehead Exotropia Hypogonadism Median cleft lip Growth delay Pain Microcornea Hypernatremia Long hallux Duplication of thumb phalanx Central diabetes insipidus Hypoplasia of the frontal bone Lobar holoprosencephaly Recurrent respiratory infections Ventricular septal defect Short philtrum Microtia Pulmonic stenosis Pulmonary hypoplasia Dental malocclusion Postaxial hand polydactyly Coarctation of aorta Preauricular skin tag Abnormality of the genitourinary system Hypoplasia of the maxilla Ectrodactyly Gonadotropin deficiency Severe global developmental delay Intrauterine growth retardation Respiratory insufficiency Abnormality of thyroid physiology Hypospadias Neonatal hypotonia Flared nostrils Telecanthus Protruding ear Craniosynostosis Wide nose Megalocornea Lower limb asymmetry Ectodermal dysplasia Intellectual disability, profound Split hand Encephalocele Poor head control Non-midline cleft lip Absent septum pellucidum Optic nerve hypoplasia Aplasia/Hypoplasia of the radius Hemivertebrae Neurodevelopmental delay Patent foramen ovale Delayed speech and language development Short foot Small hand Hand clenching Bulbous nose Anal atresia Hearing impairment Scoliosis Smooth philtrum Feeding difficulties Hip dislocation Prominent nose Myopia Atrial septal defect Abnormality of the dentition Joint laxity Long philtrum Patent ductus arteriosus Thin upper lip vermilion Brachycephaly Prominent forehead Pes cavus Tapered finger Diastolic heart murmur Heart murmur Prominent antihelix Anophthalmia Partial agenesis of the corpus callosum Bilateral cleft lip Skin tags Bilateral cleft lip and palate Sacral dimple Renal dysplasia Large forehead Wide cranial sutures Choanal atresia Alobar holoprosencephaly Hip dysplasia Thoracic hemivertebrae Hypoplasia of the premaxilla Underdeveloped tragus Hypertrichosis Single naris Short hard palate Anterior pituitary agenesis Agenesis of incisor Asymmetric ventricles Short palpebral fissure Kinked brainstem Dysesthesia Cerebellar dysplasia Broad forehead Bilateral cryptorchidism High pitched voice Hypopituitarism Poor appetite Adrenocorticotropic hormone deficiency Microphallus Bilateral postaxial polydactyly Ectopic posterior pituitary Intellectual disability, severe Synophrys Abdominal pain Deep philtrum Trigonocephaly Absent thumb Facial cleft Scaphocephaly Small posterior fossa Exencephaly Muscle weakness Peripheral neuropathy Depressed nasal ridge Delayed skeletal maturation Fatigue Cerebral atrophy Depressed nasal tip Absent nasal septal cartilage Dilatation Hypoplasia of the fovea Abnormality of the nose Abdominal situs ambiguus Visual impairment Hyperreflexia Cerebellar atrophy Pneumonia Rhabdomyolysis Neurodegeneration Delayed myelination Focal-onset seizure Status epilepticus Cerebral visual impairment Progressive microcephaly CNS hypomyelination Agitation Cortical gyral simplification Cerebellar vermis atrophy Skeletal muscle atrophy Depressivity Overlapping fingers Webbed neck Talipes equinovarus Behavioral abnormality Absent speech Clinodactyly Retrognathia Camptodactyly Arthrogryposis multiplex congenita Abnormality of eye movement Abnormality of the foot Apraxia Brachial plexus neuropathy Heterotopia Oculomotor apraxia Lissencephaly Plagiocephaly Scrotal hypoplasia Adducted thumb Pleural effusion Overlapping toe Pericardial effusion Cystic hygroma Micrognathia Radial head subluxation Hyporeflexia Postural instability Hyperhidrosis Narrow mouth Deeply set eye Rigidity Myalgia Paralysis Blepharophimosis Finger syndactyly Paresthesia Sensory impairment Cutis gyrata of scalp Hoarse voice Narrow face Narrow palpebral fissure Scapular winging Axonal degeneration Facial paralysis Chronic pain Weak voice Neuritis Peripheral axonal degeneration Unilateral breast hypoplasia



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