Cleft palate, and Short palpebral fissure

Diseases related with Cleft palate and Short palpebral fissure

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


Top matches:

Medium match CONOTRUNCAL HEART MALFORMATIONS; CTHM


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about CONOTRUNCAL HEART MALFORMATIONS; CTHM

Medium match CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME


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

Medium match MICROPHTHALMIA, SYNDROMIC 12; MCOPS12


MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

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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 MICROCEPHALY-MICROMELIA SYNDROME; MIMIS


Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs. Defects include radial ray anomalies, malformed digits, and clubfeet (summary by Evrony et al., 2017).

Related symptoms:

  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY-MICROMELIA SYNDROME; MIMIS

Medium match STROMME SYNDROME; STROMS


Stromme syndrome is an autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).

STROMME SYNDROME; STROMS Is also known as jejunal atresia with microcephaly and ocular anomalies|apple peel syndrome with microcephaly and ocular anomalies|ciliary dyskinesia, primary, 31, formerly|cild31, formerly

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about STROMME SYNDROME; STROMS

Medium match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Medium match THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME


THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.

THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME Is also known as microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations|beaulieu-boycott-innes syndrome|bbis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Medium match MICROPHTHALMIA WITH LIMB ANOMALIES; MLA


MICROPHTHALMIA WITH LIMB ANOMALIES; MLA Is also known as waardenburg anophthalmia syndrome|anophthalmia-syndactyly|ophthalmoacromelic syndrome|oas

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Cleft palate
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

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

Top 5 symptoms//phenotypes associated to Cleft palate and Short palpebral fissure

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cleft palate and Short palpebral fissure. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge Wide nasal bridge Cryptorchidism Microphthalmia Low-set ears Agenesis of corpus callosum Blepharophimosis Narrow mouth Ventricular septal defect Abnormality of the pinna Talipes equinovarus Short nose Generalized hypotonia Abnormal facial shape Deeply set eye Delayed speech and language development Hypoplasia of the corpus callosum Retrognathia Seizures Growth delay Hearing impairment Epicanthus Upslanted palpebral fissure Wide nose Bifid uvula Short stature Abnormal cardiac septum morphology

Rare Symptoms - Less than 30% cases


Wide intermamillary distance Feeding difficulties Hydrocephalus Dystonia Brachycephaly Muscular hypotonia of the trunk Sparse hair Broad nasal tip Anophthalmia Prominent forehead Telecanthus Abnormal heart morphology Small for gestational age Long nose Median cleft palate Wide mouth Downslanted palpebral fissures Posteriorly rotated ears Intellectual disability, mild Cerebellar vermis hypoplasia Microcornea Carious teeth Polydactyly Abnormality of metabolism/homeostasis Ptosis Myopia Oligodactyly Horseshoe kidney Craniosynostosis Short neck Spasticity Motor delay Short philtrum Cleft upper lip Hernia Cleft lip Thin vermilion border Protruding ear Atrial septal defect Anal atresia Prominent nasal bridge Renal hypoplasia Coloboma Prominent nose Pointed chin Dental malocclusion Renal agenesis Midline central nervous system lipomas Broad forehead Camptodactyly Recurrent urinary tract infections Unilateral renal agenesis Hypopituitarism Premature ovarian insufficiency Sparse eyelashes Bifid nose Overlapping toe Low hanging columella Mild microcephaly High anterior hairline Perimembranous ventricular septal defect Velopharyngeal insufficiency High forehead Median cleft lip Patent ductus arteriosus Low-set, posteriorly rotated ears Jejunal atresia Corneal astigmatism Preaxial foot polydactyly Midface retrusion Hypospadias Pectus excavatum Calvarial skull defect Bifid nasal tip Osteopenia Pes planus Alopecia totalis Microtia Abnormality of the dentition Abnormal toenail morphology Flat face Coronal craniosynostosis Short palm Tapered finger Microdontia Meningocele Scrotal hypoplasia Overfolded helix Broad neck Ureterocele Endometriosis Macrocephaly Left-to-right shunt Anterior pituitary hypoplasia Bilateral renal hypoplasia Postaxial foot polydactyly Short femur Large fontanelles Encephalocele Large sella turcica Depressed nasal ridge Parietal foramina Hyperkeratosis Glaucoma Hyperhidrosis Tibial bowing Alopecia Thick nasal alae Patellar hypoplasia Broad columella Abnormal renal morphology Hand oligodactyly Flared nostrils Ventriculomegaly Foot oligodactyly Metacarpal synostosis Camptodactyly of 2nd-5th fingers Fibular hypoplasia Deep philtrum Muscular ventricular septal defect Postaxial hand polydactyly Thin lower lip vermilion Fused fourth and fifth metacarpals High palate Frontal bossing Syndactyly Postnatal growth retardation Hip dislocation Hypoplasia of the olfactory bulb Toe syndactyly Sparse and thin eyebrow Single transverse palmar crease Abnormality of the cardiovascular system Sandal gap Aplasia/Hypoplasia of the tibia Upper airway obstruction Dermoid cyst Split hand Choroid plexus cyst Decreased lacrimation Retrocerebellar cyst Abnormal vertebral morphology Abnormality of the hair Hypohidrosis Hemivertebrae Hypoplastic iris stroma Aplasia/Hypoplasia of the corpus callosum Retinal vascular tortuosity Secundum atrial septal defect Renal dysplasia Preauricular skin tag Narrow palpebral fissure Abnormal palate morphology Abnormality of vision 2-3 toe syndactyly Mixed hearing impairment External ear malformation Eyelid coloboma Hypomimic face Unilateral cleft lip Underdeveloped nasal alae Bilateral choanal atresia Lower eyelid coloboma Bilateral choanal atresia/stenosis Severe global developmental delay Pulmonary hypoplasia Chorea Congenital diaphragmatic hernia Tetraparesis Short chin Spastic tetraparesis Bicornuate uterus Choanal atresia Hypoplasia of the maxilla Failure to thrive Double outlet right ventricle Abnormality of cardiovascular system morphology Severe short stature Postaxial polydactyly Tetralogy of Fallot Coarctation of aorta Hypocalcemia Nasal speech Broad hallux Transposition of the great arteries Submucous cleft hard palate Hypoparathyroidism Truncus arteriosus Feeding difficulties in infancy Maternal diabetes Pulmonary artery atresia Complete atrioventricular canal defect Aortopulmonary window Anomalous origin of one pulmonary artery from ascending aorta Sensorineural hearing impairment Malar flattening Inguinal hernia Mandibular prognathia Conductive hearing impairment Abnormality of the eye Hypoplastic left atrium Intellectual disability, severe Accessory spleen Malabsorption Absent radius Short tibia Humeroradial synostosis Forearm undergrowth Aplasia of the ulna Cataract Cognitive impairment Myopathy Cerebellar hypoplasia Hydronephrosis Astigmatism Absent thumb Iris coloboma Intestinal malrotation Optic nerve hypoplasia Preaxial polydactyly Short columella Sclerocornea Duodenal atresia Ectopia pupillae Sex reversal Peters anomaly Intestinal atresia Cystic hygroma Cortical gyral simplification Long philtrum Prominent metopic ridge Absent speech Thin upper lip vermilion Neurological speech impairment Smooth philtrum Downturned corners of mouth Highly arched eyebrow Round face Absence seizures Microretrognathia Widely spaced teeth Partial agenesis of the corpus callosum Bruxism Abnormality of the hand Prominent nasal tip Long upper lip Intrauterine growth retardation Abnormality of the skeletal system Respiratory failure Narrow chest Talipes Micromelia Convex nasal ridge Limb undergrowth Oligohydramnios Abnormality of the glabella



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Spastic tetraplegia, related diseases and genetic alterations Brachydactyly and Micromelia, related diseases and genetic alterations Myopathy and Carious teeth, related diseases and genetic alterations Cognitive impairment and Visual impairment, related diseases and genetic alterations

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