Cleft palate, and Telecanthus

Diseases related with Cleft palate and Telecanthus

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


Top matches:

Medium match OROFACIODIGITAL SYNDROME TYPE 14


Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.

OROFACIODIGITAL SYNDROME TYPE 14 Is also known as oral-facial-digital syndrome type 14|ofd14|microcephaly-cerebral malformation-orofaciodigital syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormal facial shape
  • Cleft palate
  • Hypoplasia of the corpus callosum


SOURCES: OMIM ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 14

Medium match WAARDENBURG SYNDROME TYPE 1


Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.

WAARDENBURG SYNDROME TYPE 1 Is also known as waardenburg syndrome type i|ws1

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG SYNDROME TYPE 1

Medium match TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME


Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.

TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME Is also known as odpf syndrome|odpd|osseous dysplasia, digital, with facial pigmentary defects and multiple frenula|todpd|terminal osseous dysplasia and pigmentary defects|odpf

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Ptosis
  • Low-set ears
  • Flexion contracture


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Medium match BARBER-SAY SYNDROME


Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

Medium match ACROMELIC FRONTONASAL DYSOSTOSIS; AFND


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

Medium match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3


The clinical description of Robinow syndrome includes mesomelia, normal intellect, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge, which are collectively referred to as a 'fetal face' (summary by White et al., 2016).For a discussion of genetic heterogeneity in Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3

Medium match ACROMELIC FRONTONASAL DYSPLASIA


Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

ACROMELIC FRONTONASAL DYSPLASIA Is also known as toriello syndrome|acromelic frontonasal dysostosis|afnd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSPLASIA

Medium match NATIVE AMERICAN MYOPATHY


Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Medium match GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS


Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by Tham et al., 2016).

GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS Is also known as polycystic kidney disease, autosomal recessive, with microbrachycephaly, hypertelorism, and brachymelia

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about GILLESSEN-KAESBACH-NISHIMURA SYNDROME; GIKANIS

Top 5 symptoms//phenotypes associated to Cleft palate and Telecanthus

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cleft palate and Telecanthus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Epicanthus Wide nasal bridge Ptosis Brachycephaly Abnormality of the skeletal system Global developmental delay Hearing impairment Short nose Abnormal facial shape Hypoplasia of the corpus callosum Flexion contracture Depressed nasal bridge Short palpebral fissure Midface retrusion Downturned corners of mouth Seizures Upslanted palpebral fissure Short stature Short neck Underdeveloped nasal alae Growth delay Motor delay Ventriculomegaly Talipes equinovarus Microretrognathia Agenesis of corpus callosum Scoliosis Anteverted nares

Rare Symptoms - Less than 30% cases


Kyphosis Conductive hearing impairment Wide mouth Long nose Syndactyly Clinodactyly Skeletal dysplasia Multiple joint contractures Sparse and thin eyebrow Feeding difficulties Depressed nasal ridge Dental malocclusion Long philtrum Generalized hypotonia Smooth philtrum Failure to thrive Wide nose Thin vermilion border Abnormality of the pinna Ventricular septal defect Brachydactyly Myopia Bifid nose Bifid nasal tip Upper airway obstruction Cleft upper lip Mandibular prognathia Abnormality of cardiovascular system morphology Hypopituitarism Glaucoma Patellar hypoplasia Cleft lip Talipes Broad nasal tip Encephalocele Polydactyly Absent speech Intellectual disability, severe Tented upper lip vermilion Preaxial foot polydactyly Retrocerebellar cyst Parietal foramina Macrocephaly Large sella turcica Choroid plexus cyst Meningocele Proptosis Hyperkeratosis Patent ductus arteriosus Craniosynostosis Patent foramen ovale Midline defect of the nose Hyperhidrosis Bilateral talipes equinovarus Vertical clivus Sparse hair Cerebellar vermis hypoplasia Large fontanelles Hypohidrosis Webbed neck Lipoma Facial cleft Long eyelashes Tricuspid regurgitation Mesomelia Agenesis of permanent teeth Anteriorly placed anus Short phalanx of finger U-Shaped upper lip vermilion Thick nail Frontal bossing Gingival overgrowth Broad thumb Widow's peak Pulmonary artery atresia Broad foot Hypoplastic right heart Frontal balding Blue sclerae Alopecia Sparse eyelashes Muscle weakness Median cleft lip Prominent nasal bridge Congenital contracture Gowers sign Myopathic facies Ankle contracture Malignant hyperthermia Restrictive deficit on pulmonary function testing Multiple skeletal anomalies Thrombocytopenia Hernia Abnormal heart morphology Posteriorly rotated ears Retrognathia Hydronephrosis Abnormality of the kidney Pulmonary hypoplasia Narrow forehead Convex nasal ridge Sloping forehead Oligohydramnios Congenital diaphragmatic hernia Hepatic fibrosis Short long bone Polycystic kidney dysplasia Flared metaphysis Long palpebral fissure Aniridia Abnormal lung lobation Double outlet right ventricle Ulnar deviation of the hand Large fleshy ears Open mouth Generalized muscle weakness Coronal craniosynostosis Cognitive impairment Abnormal toenail morphology Calvarial skull defect Alopecia totalis Broad columella Thick nasal alae Anterior pituitary hypoplasia Median cleft palate Decreased lacrimation Dermoid cyst Aplasia/Hypoplasia of the tibia Hypoplasia of the olfactory bulb Midline central nervous system lipomas Abnormality of the glabella Bilateral cryptorchidism High palate Long face Fever Skeletal muscle atrophy Downslanted palpebral fissures Respiratory insufficiency Myopathy Pectus excavatum Areflexia Hyporeflexia Kyphoscoliosis Proximal muscle weakness Facial palsy Blepharophimosis Arthrogryposis multiplex congenita Abnormality of the foot Overlapping toe Atresia of the external auditory canal Preaxial polydactyly Abnormal oral frenulum morphology Malar flattening Osteoporosis Camptodactyly Coloboma Camptodactyly of finger Abnormality of skin pigmentation Iris coloboma Short toe Anal stenosis Fibroma Toe clinodactyly Camptodactyly of toe White eyelashes Mesomelic arm shortening Mesomelic leg shortening Localized skin lesion Abnormal foot bone ossification Abnormal hand bone ossification Localized osteoporosis Spasticity Delayed speech and language development Dystonia Prominent forehead Thin upper lip vermilion Deeply set eye White eyebrow Lacrimation abnormality Protruding ear Abnormality of the eye Micropenis Retinopathy Postaxial polydactyly Trigonocephaly Molar tooth sign on MRI Hamartoma Increased number of teeth Bifid tongue Lobulated tongue Hamartoma of tongue Aplasia of the epiglottis Strabismus Synophrys White forelock Thick eyebrow Aganglionic megacolon Abnormality of the hair Spina bifida Hypopigmented skin patches Abnormality of vision Congenital sensorineural hearing impairment Premature graying of hair Hypopigmentation of hair Sprengel anomaly Heterochromia iridis White hair Muscular hypotonia of the trunk Short philtrum Oligodontia Skin tags Hyperextensible skin Dermal atrophy Redundant skin Sparse eyebrow Ectropion Cupped ear Aplasia/Hypoplasia of the eyebrow Aplasia/Hypoplasia of the skin Hypoplastic nipples Shawl scrotum Inverted nipples Taurodontia Absent nipple Generalized hirsutism Gingival fibromatosis Sparse or absent eyelashes Breast aplasia Broad alveolar ridges Generalized hypertrichosis Abnormality of female external genitalia Mild hearing impairment Frontal hirsutism Ablepharon Abnormality of male external genitalia Heterotopia Wide anterior fontanel Cutis laxa Low anterior hairline Small for gestational age Hypospadias Neurological speech impairment Highly arched eyebrow Bifid uvula Round face Wide intermamillary distance Absence seizures Widely spaced teeth Partial agenesis of the corpus callosum Prominent metopic ridge Bruxism Prominent nasal tip Long upper lip Rigidity Abnormality of the face Microtia Dry skin Bulbous nose Hirsutism High, narrow palate Delayed eruption of teeth Triangular face Ectodermal dysplasia Abnormality of the skin Microdontia Hypertrichosis Abnormality of the genital system Periportal fibrosis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Distal amyotrophy, related diseases and genetic alterations Neuroblastoma and Hypopigmentation of the skin, related diseases and genetic alterations Macrocephaly and Developmental regression, related diseases and genetic alterations Cryptorchidism and Esotropia, related diseases and genetic alterations Cognitive impairment and Spina bifida, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more