Hypertelorism, and Cleft upper lip

Diseases related with Hypertelorism and Cleft upper lip

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

OROFACIODIGITAL SYNDROME TYPE 5 Is also known as polydactyly postaxial with median cleft of upper lip|oral-facial-digital syndrome type 5|polydactyly, postaxial, with median cleft of upper lip|oral-facial-digital syndrome, type v|thurston syndrome|ofd5|orofaciodigital syndrome, thurston type|ofds v

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 5

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Other less relevant matches:

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

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

Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.

ISOLATED KLIPPEL-FEIL SYNDROME Is also known as congenital cervical vertebral fusion|klippel-feil sequence|congenital fused cervical segments|klippel-feil malformation|cervical vertebral fusion, autosomal recessive|kfs, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED KLIPPEL-FEIL SYNDROME

Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

BLEPHARO-CHEILO-ODONTIC SYNDROME Is also known as lagophthalmia with bilateral cleft lip and palate|clefting, ectropion, and conical teeth|ectropion, inferior, with cleft lip and/or palate|lagophthalmia-cleft lip and palate syndrome|bcd syndrome|blepharocheilodontic syndrome|elschnig syndrome|bcds|elschi

Related symptoms:

  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape
  • Cleft palate
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHARO-CHEILO-ODONTIC SYNDROME

Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, {136760}), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSOSTOSIS; AFND

Top 5 symptoms//phenotypes associated to Hypertelorism and Cleft upper lip

Symptoms // Phenotype % cases
Cleft lip Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Agenesis of corpus callosum Unilateral cleft lip Hearing impairment Sensorineural hearing impairment Seizures Conductive hearing impairment Oral cleft Polydactyly Short nose Ventricular septal defect Scoliosis Protruding ear Abnormal facial shape Cryptorchidism Bilateral cleft lip and palate Low-set ears Bilateral cleft lip Upslanted palpebral fissure Anal atresia Epicanthus

Rare Symptoms - Less than 30% cases

Talipes Blindness Abnormality of the skeletal system Abnormal sacrum morphology Abnormality of the kidney Abnormality of cardiovascular system morphology Hypotelorism Smooth philtrum Short stature Syndactyly Oligodontia High forehead Abnormality of the eye High palate Abnormality of vision Renal dysplasia Choanal atresia Renal hypoplasia Prominent nose Brachycephaly Vertebral fusion Midline defect of the nose Flat face Short philtrum Talipes equinovarus Frontal bossing Motor delay Median cleft lip Ectropion of lower eyelids High anterior hairline Ectropion Microcephaly Bifid uvula Postaxial polydactyly Euryblepharon Short neck Midface retrusion Hernia Hypoplasia of the corpus callosum Fetal polyuria Sprengel anomaly Urogenital fistula Potter facies Urethral obstruction Sirenomelia Abnormality of the vertebral column Bilateral renal dysplasia Hemiplegia/hemiparesis Cognitive impairment Renal hypoplasia/aplasia Facial asymmetry U-Shaped upper lip vermilion Bifid nose Nonketotic hypoglycemia Webbed neck Wide intermamillary distance Patellar hypoplasia Abnormality of the ribs Low posterior hairline Spina bifida Abnormality of the pinna Overlapping toe Bilateral renal hypoplasia Abnormality of the genitourinary system Proteinuria Falls Pulmonary hypoplasia Renal agenesis Oligohydramnios Primary amenorrhea Depressed nasal ridge Multicystic kidney dysplasia Abnormal intestine morphology Choroid plexus cyst Polycystic kidney dysplasia Parietal foramina Unilateral renal agenesis Retrocerebellar cyst Large sella turcica Tracheoesophageal fistula Frontal balding Non-midline cleft lip Breech presentation Bicornuate uterus Vaginal atresia Abnormality of female internal genitalia Abnormal cranial nerve morphology Bilateral renal agenesis Abnormality of the shoulder Ectopic anus Multiple rows of eyelashes Myelomeningocele Conical tooth Lipoma Facial cleft Abnormal hair quantity Distichiasis Hypopituitarism Epidermoid cyst Meningoencephalocele Thyroid agenesis Dermoid cyst Ptosis Widow's peak Myopia Ventriculomegaly Glaucoma Telecanthus Wide nose Broad nasal tip Encephalocele Heterotopia Wide anterior fontanel Preaxial polydactyly Bilateral talipes equinovarus Broad foot Abnormal eyelid morphology Fused cervical vertebrae Clinodactyly Short sternum Bilateral cryptorchidism Congenital muscular torticollis Aplasia of the ulna Cervical C2/C3 vertebral fusion Abnormal vertebral segmentation and fusion Thick nail Decreased cervical spine mobility Limited neck range of motion Neoplasm Abnormality of the dentition Posteriorly rotated ears Overfolded helix Hypothyroidism Sparse hair Finger syndactyly Carious teeth Hypodontia Bifid nasal tip Ectodermal dysplasia Small nail Opacification of the corneal stroma Cutaneous syndactyly Preaxial foot polydactyly Upper airway obstruction Reduced number of teeth Blepharophimosis Retrognathia Dystonia Low anterior hairline Severe muscular hypotonia Truncal obesity Slender finger Overweight Mild microcephaly Bruxism Abnormality of the cerebellar vermis Horizontal eyebrow Cataract Dysphagia Intellectual disability, mild Postnatal microcephaly Kyphosis Immunodeficiency Kyphoscoliosis Mental deterioration Small for gestational age Micromelia Neurodegeneration Macroglossia Generalized dystonia Mild global developmental delay Hypoplastic scapulae Bulbar signs Progressive microcephaly Febrile seizures Externally rotated hips Horseshoe kidney Bulbous nose Single transverse palmar crease Sparse eyelashes Sparse eyebrow Bilateral cleft palate Agenesis of lateral incisor Palate fistula Hyponasal speech Abnormal heart morphology Postaxial hand polydactyly Aganglionic megacolon Postaxial foot polydactyly Round face Lobulated tongue Generalized hypotonia Growth delay Delayed speech and language development Intellectual disability, severe Obesity Hyperactivity Neonatal hypotonia Developmental regression Abnormality of the cerebral white matter Synophrys Downturned corners of mouth Achalasia Brachydactyly Hypertension Short palpebral fissure Abnormality of metabolism/homeostasis Inguinal hernia Narrow mouth Mandibular prognathia Feeding difficulties in infancy Coloboma Abnormal cardiac septum morphology Prominent nasal bridge Thin vermilion border Hypoplasia of the maxilla Underdeveloped nasal alae Preauricular skin tag Atrial septal defect Narrow palpebral fissure Abnormal palate morphology 2-3 toe syndactyly Mixed hearing impairment External ear malformation Eyelid coloboma Hypomimic face Secundum atrial septal defect Median cleft palate Bilateral choanal atresia Lower eyelid coloboma Bilateral choanal atresia/stenosis Malar flattening Micrognathia Macrocephaly Flat occiput Anteverted nares Hydrocephalus Microphthalmia Macrotia Thin upper lip vermilion Broad forehead Iris coloboma Highly arched eyebrow Dental malocclusion Omphalocele Holoprosencephaly Partial agenesis of the corpus callosum Flat nasal alae Depressed nasal tip Broad face Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Single median maxillary incisor Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Vertical clivus


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