Hypertelorism, and Thin upper lip vermilion

Diseases related with Hypertelorism and Thin upper lip vermilion

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63; EIEE63

Related symptoms:

  • Short stature
  • Hypertelorism
  • Hepatomegaly
  • Respiratory insufficiency
  • Short nose


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 2; GPHYSD2

Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

Other less relevant matches:

INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Hypertelorism
  • Epicanthus
  • Brachydactyly
  • Ventriculomegaly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, {215100}), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014).

SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY Is also known as severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 106; MRX106

Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.

OCULOTRICHOANAL SYNDROME Is also known as mota syndrome|marles syndrome|manitoba oculotrichoanal syndrome|marles-greenberg-persaud syndrome

Related symptoms:

  • Hypertelorism
  • High palate
  • Wide nasal bridge
  • Microphthalmia
  • Narrow mouth


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OCULOTRICHOANAL SYNDROME

Hyperphosphatasia with mental retardation syndrome-4 is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, mental retardation, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase (summary by Howard et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4 Is also known as glycosylphosphatidylinositol biosynthesis defect 10|gpibd10

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4

Top 5 symptoms//phenotypes associated to Hypertelorism and Thin upper lip vermilion

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Absent speech Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Thin upper lip vermilion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Smooth philtrum Microcephaly Long philtrum Short nose Abnormal facial shape Generalized-onset seizure Wide nasal bridge Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases

Highly arched eyebrow Ptosis Low-set ears High palate Full cheeks Broad nasal tip Growth delay Short philtrum Respiratory insufficiency Wide nose Pointed chin Short stature Intellectual disability, moderate Dolichocephaly Generalized myoclonic seizures Inability to walk Long face Narrow forehead Decreased testicular size Thick vermilion border Open mouth Midface retrusion Amblyopia Astigmatism Bicuspid aortic valve Drooling Spastic diplegia Supernumerary nipple Finger clinodactyly Ventricular septal defect Hypermetropia Congenital cataract Spasticity Flexion contracture Abnormality of the skeletal system Cerebellar atrophy Macrotia Coarse facial features Neonatal hypotonia Tetraparesis Retrognathia Rhizomelia Spastic tetraparesis Progressive spastic quadriplegia Nystagmus Hypospadias Clinodactyly Clinodactyly of the 5th finger High hypermetropia Hypoplasia of the maxilla Slender finger Upslanted palpebral fissure Nasolacrimal duct obstruction Upper eyelid coloboma Cryptophthalmos Ablepharon Cleft palate Hypoplasia of the corpus callosum Involuntary movements Vaginal atresia Postnatal microcephaly Mutism Tented upper lip vermilion Elevated alkaline phosphatase Bruxism Large earlobe Shortening of all distal phalanges of the fingers Broad columella Bifid nasal tip Periventricular leukomalacia Renal agenesis Microphthalmia Narrow mouth High forehead Coloboma Corneal opacity Ectodermal dysplasia Amenorrhea Abnormal hair pattern Primary amenorrhea Omphalocele Abnormality of the hair Anophthalmia Anteriorly placed anus Anal stenosis Eyelid coloboma Cataract Obesity Long eyebrows Nephrocalcinosis Mitral stenosis Depressed nasal bridge Anxiety Thin vermilion border Triangular face Focal-onset seizure Obsessive-compulsive behavior Toe walking Unilateral renal agenesis Hyperparathyroidism Obsessive-compulsive trait Motor delay Intellectual disability, mild Brachycephaly Ovoid vertebral bodies Cone-shaped epiphysis EEG abnormality Delayed skeletal maturation Abnormality of movement Epileptic encephalopathy Cerebral palsy Overlapping toe Delayed ability to walk Hepatomegaly Joint stiffness Aortic valve stenosis Feeding difficulties Short palm Short foot Mitral valve prolapse Pulmonary arterial hypertension Mitral regurgitation Autism Attention deficit hyperactivity disorder Broad eyebrow Malar flattening Preaxial polydactyly Cystic hygroma Thoracic dysplasia Hypoplastic ischia Vertebral wedging Delayed speech and language development Cerebral cortical atrophy Short ribs Aggressive behavior Prominent nose Short chin Truncal obesity Polyphagia Overweight Polycystic kidney dysplasia Intestinal malrotation Synophrys Hydrocephalus Dental crowding Cafe-au-lait spot Narrow palate Epicanthus Brachydactyly Ventriculomegaly Syndactyly Postaxial polydactyly Polydactyly Cleft lip Platyspondyly Narrow chest Micromelia Oral cleft Tented philtrum


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