Hypertelorism, and Bulbous nose

Diseases related with Hypertelorism and Bulbous nose

In the following list you will find some of the most common rare diseases related to Hypertelorism and Bulbous nose that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Hypertelorism
  • Abnormality of the kidney
  • Short philtrum
  • Bulbous nose
  • Renal agenesis


SOURCES: OMIM MENDELIAN

More info about BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES; BNAR

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).

ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as afa syndrome|thick lips and oral mucosa

Related symptoms:

  • Seizures
  • Hypertelorism
  • Micrognathia
  • Intellectual disability, mild
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALOID FACIAL APPEARANCE SYNDROME

Other less relevant matches:

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by Harding et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17

DeSanto-Shinawi syndrome is a rare neurodevelopmental disorder characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes. Most patients also have gastrointestinal and mild ocular abnormalities, as well as behavioral problems (summary by DeSanto et al., 2015).

FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION Is also known as developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY-BEHAVIORAL ABNORMALITIES SYNDROME DUE TO WAC POINT MUTATION

MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).

5P13 MICRODUPLICATION SYNDROME Is also known as dup(5)(p13)|trisomy 5p13

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 5P13 MICRODUPLICATION SYNDROME

Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

Top 5 symptoms//phenotypes associated to Hypertelorism and Bulbous nose

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Bulbous nose. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

High palate Epicanthus Low-set ears Intellectual disability Hypoplasia of the corpus callosum Brachycephaly Spasticity Delayed speech and language development Hyperreflexia Strabismus Wide nasal bridge Short stature Muscular hypotonia of the trunk Tapered finger Highly arched eyebrow Thick eyebrow Synophrys Coarse facial features Muscular hypotonia Short philtrum

Rare Symptoms - Less than 30% cases

Scoliosis Astigmatism Macrotia Postnatal microcephaly Large hands Posteriorly rotated ears Hyperactivity Sparse hair Prominent nose Midface retrusion Aggressive behavior Macrocephaly Myopia Upslanted palpebral fissure Thick vermilion border EEG abnormality Sloping forehead Talipes Blepharophimosis Talipes equinovarus Agenesis of corpus callosum Babinski sign Hypertonia Micrognathia Feeding difficulties Full cheeks Broad forehead Frontal bossing Renal agenesis Depressed nasal bridge Flexion contracture Sleep disturbance Hearing impairment Cerebral palsy Downturned corners of mouth Hirsutism Motor delay Attention deficit hyperactivity disorder Sensorineural hearing impairment Hypoplasia of the brainstem Cortical gyral simplification Limb hypertonia Decreased head circumference Loss of ability to walk Facial hypotonia Spastic diplegia Abnormality of the pinna Short neck Behavioral abnormality Constipation Prominent forehead Thin upper lip vermilion Agitation Anxiety Deeply set eye Dolichocephaly Spastic tetraplegia Stereotypy Narrow forehead Hypotelorism Low posterior hairline Wide mouth Apnea Short palpebral fissure Neonatal hypotonia Absent speech Small for gestational age Intellectual disability, severe Exotropia Hydrocephalus Obsessive-compulsive behavior Long fingers Overweight Turricephaly Arachnodactyly Craniosynostosis Inverted nipples Brain atrophy Pes cavus Mandibular prognathia Joint laxity Long foot Unsteady gait Febrile seizures Long face Focal-onset seizure Proptosis Hypsarrhythmia Tetraplegia Paraplegia Spastic paraplegia Long eyelashes Progressive microcephaly Decreased muscle mass Delayed ability to walk Lissencephaly Metabolic acidosis Poor speech Thick lower lip vermilion Palate fistula Hyponasal speech Intellectual disability, mild Joint hyperflexibility Everted lower lip vermilion Macroglossia Thickened skin Bilateral cleft palate Gingival overgrowth Abnormality of the metacarpal bones Long nose Palpebral edema Craniofacial hyperostosis Abnormality of the tongue Thick nasal alae Agenesis of lateral incisor Euryblepharon Nystagmus Cleft lip Overlapping toe Anteriorly placed anus Rectovaginal fistula Bifid nose Rectal atresia Cryptorchidism Hernia Protruding ear Ectropion of lower eyelids Single transverse palmar crease Sparse eyelashes Sparse eyebrow Ectropion Bilateral cleft lip Bilateral cleft lip and palate High anterior hairline Abnormal lip morphology Abnormality of cardiovascular system morphology Arthrogryposis multiplex congenita Infantile muscular hypotonia Lactic acidosis Hepatic failure Abnormality of the kidney Delayed myelination Underdeveloped nasal alae Aciduria Tented upper lip vermilion Acidosis Adducted thumb Growth delay Failure to thrive Intrauterine growth retardation Ventriculomegaly Cerebellar hypoplasia Polyhydramnios High forehead Microphthalmia Obesity Microretrognathia Clinodactyly of the 5th finger Autism Autistic behavior Prominent nasal bridge Short palm Short foot Round face Polyphagia Long philtrum Narrow nose Misalignment of teeth Cataract Downslanted palpebral fissures Anteverted nares Dystonia Short nose Simple febrile seizures


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Protruding ear, related diseases and genetic alterations Delayed speech and language development and Platyspondyly, related diseases and genetic alterations Macrocephaly and Acute lymphoblastic leukemia, related diseases and genetic alterations Tremor and Dandy-Walker malformation, related diseases and genetic alterations Nystagmus and Visual impairment, related diseases and genetic alterations