Cleft palate, and Retrognathia

Diseases related with Cleft palate and Retrognathia

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


Top matches:

Medium match BAMFORTH-LAZARUS SYNDROME


Bamforth-Lazarus syndrome is a very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.

BAMFORTH-LAZARUS SYNDROME Is also known as bamforth syndrome|athyroidal hypothyroidism-spiky hair-cleft palate syndrome|bamforth-lazarus syndrome|hypothyroidism-cleft palate syndrome

Related symptoms:

  • Intellectual disability
  • Cleft palate
  • Hypothyroidism
  • Polyhydramnios
  • Retrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BAMFORTH-LAZARUS SYNDROME

Medium match AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT


Autosomal dominant rhegmatogenous retinal detachment is a rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.

AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT Is also known as stickler syndrome, type i, predominantly ocular|stickler syndrome, atypical

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Cataract
  • Visual impairment
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT

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

Mendelian

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

Learn more

Other less relevant matches:

Medium match HYDROLETHALUS


Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Low-set ears
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about HYDROLETHALUS

Medium match ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN


The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN

Medium match BRANCHIOOTIC SYNDROME


Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).

BRANCHIOOTIC SYNDROME Is also known as bo syndrome 1|branchiootic dysplasia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRANCHIOOTIC SYNDROME

Medium match MECKEL SYNDROME, TYPE 10; MKS10


Related symptoms:

  • Seizures
  • Hearing impairment
  • Cleft palate
  • Ptosis
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 10; MKS10

Medium match SECOND BRANCHIAL CLEFT ANOMALY


Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

Medium match CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME


Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.

CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA SYNDROME Is also known as mental retardation, x-linked, syndromic 28|graham-cox syndrome|mrxs28

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-INTELLECTUAL DISABILITY-COLOBOMA-MICROGNATHIA 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

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

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormality of the pinna 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 Retrognathia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Conductive hearing impairment Patent ductus arteriosus Downslanted palpebral fissures Hydrocephalus Abnormal facial shape Agenesis of corpus callosum Polyhydramnios Choanal atresia

Rare Symptoms - Less than 30% cases


Postaxial polydactyly Molar tooth sign on MRI Hypoplasia of the maxilla Microtia Cryptorchidism Bilateral choanal atresia Micropenis Polydactyly Microphthalmia Sensorineural hearing impairment Microcephaly Ventricular septal defect Pulmonary hypoplasia Anophthalmia Epicanthus Abnormality of the outer ear Short stature Anencephaly Atresia of the external auditory canal Cupped ear Visual impairment Laryngomalacia Posteriorly rotated ears Hypotelorism Short chin Intestinal malrotation Anal atresia Narrow mouth Spastic tetraparesis Abnormal heart morphology Abnormality of the eye Chorea Atrial septal defect Hypospadias Lip pit Cochlear malformation Hypoplasia of the cochlea Branchial anomaly Morphological abnormality of the middle ear Dilatated internal auditory canal Seizures Ptosis Frontal bossing Bicornuate uterus Respiratory distress Renal cyst Encephalocele Heterotopia Exotropia Narrow palpebral fissure Sacral dimple Holoprosencephaly Occipital encephalocele Talipes equinovarus Situs inversus totalis Hyperplasia of the maxilla Transposition of the great arteries Depressed nasal bridge Broad neck Optic nerve coloboma Congenital diaphragmatic hernia Global developmental delay Generalized hypotonia Spasticity Feeding difficulties Delayed speech and language development Wide nasal bridge Prominent nasal bridge Dystonia Hernia Brachycephaly Muscular hypotonia of the trunk Sparse hair Severe global developmental delay Wide nose Broad nasal tip Iris coloboma Coloboma Tracheomalacia Aglossia Microglossia Stenosis of the external auditory canal Mandibular aplasia Hypoplasia of the epiglottis Laryngeal hypoplasia Alobar holoprosencephaly Proboscis Branchial fistula Short palpebral fissure High forehead Tetraparesis Synotia Scoliosis Nystagmus High palate Macrocephaly Short neck Pectus excavatum Tracheobronchomalacia Apnea Abnormality of the inner ear Microretrognathia Membranous vitreous appearance Hypoplasia of the corpus callosum Intellectual disability, severe Absent speech Upslanted palpebral fissure Telecanthus Retinopathy Trigonocephaly Posterior vitreous detachment Hamartoma Increased number of teeth Bifid tongue Lobulated tongue Hamartoma of tongue Aplasia of the epiglottis Abnormality of cardiovascular system morphology Erosive vitreoretinopathy Rhegmatogenous retinal detachment Low-set, posteriorly rotated ears Myopia Hypothyroidism Curly hair Congenital hypothyroidism Abnormal hair quantity Thyroid agenesis Bifid epiglottis Cataract Blindness Abnormal vitreous humor morphology Skeletal dysplasia Nyctalopia Genu valgum Retinal detachment Osteoarthritis Epiphora Vitreoretinopathy Premature osteoarthritis Deeply set eye Micromelia Branchial cyst Sleep apnea Mandibulofacial dysostosis Decreased head circumference Pretragal ectopia Facial palsy Abnormality of the kidney Facial asymmetry Preauricular skin tag Preauricular pit Acetabular dysplasia Mixed hearing impairment Severe sensorineural hearing impairment Glossoptosis Obstructive sleep apnea Upper airway obstruction Abnormal nasolacrimal system morphology Body odor Broad finger Anotia Bifid uvula Abnormality of the sense of smell Premature birth Postaxial hand polydactyly Absent septum pellucidum Submucous cleft hard palate Abnormality of the respiratory system Arrhinencephaly Unilateral cleft lip Abnormality of the fallopian tube Femoral bowing Tracheal atresia Gingival cleft Malar flattening Midface retrusion Macrotia Thick vermilion border Decreased body weight Flared metaphysis Hypoplastic left atrium



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Postaxial polydactyly, related diseases and genetic alterations Dysarthria and Meningitis, related diseases and genetic alterations Ptosis and Urinary incontinence, related diseases and genetic alterations Flexion contracture and Choanal atresia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more