Cleft palate, and Microphthalmia

Diseases related with Cleft palate and Microphthalmia

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


Top matches:

Medium match MICROPHTHALMIA, SYNDROMIC 11; MCOPS11


Related symptoms:

  • Global developmental delay
  • Cleft palate
  • Microphthalmia
  • Agenesis of corpus callosum
  • Cleft lip


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 11; MCOPS11

Medium match MECKEL SYNDROME, TYPE 5; MKS5


Related symptoms:

  • Cleft palate
  • Microphthalmia
  • Polydactyly
  • Cleft lip
  • Abnormality of the kidney


SOURCES: MESH OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 5; MKS5

Medium match MECKEL SYNDROME, TYPE 2; MKS2


Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 2; MKS2 Is also known as meckel-gruber syndrome, type 2

Related symptoms:

  • Growth delay
  • Cleft palate
  • Intrauterine growth retardation
  • Microphthalmia
  • Polydactyly


SOURCES: OMIM MESH MENDELIAN

More info about MECKEL SYNDROME, TYPE 2; MKS2

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Other less relevant matches:

Medium match UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY


Uveal coloboma-cleft lip and palate-intellectual disability is characterised by coloboma of the iris, bilateral cleft lip and palate, and intellectual deficiency of varying degree. A wide variability in clinical expression is observed. Some patients also present with microphthalmia, cataract, glaucoma, ptosis, sensorineural hearing loss and haematuria. To date, 12 cases have been described from three generations of a single family. Transmission is autosomal dominant.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about UVEAL COLOBOMA-CLEFT LIP AND PALATE-INTELLECTUAL DISABILITY

Medium match HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME Is also known as bosma arhinia-microphthalmia syndrome|bosma-henkin-christiansen syndrome

Related symptoms:

  • Cleft palate
  • Cataract
  • Cryptorchidism
  • Blindness
  • Microphthalmia


SOURCES: ORPHANET MENDELIAN

More info about HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME

Medium match MECKEL SYNDROME, TYPE 4; MKS4


Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly (summary by Baala et al., 2007).For a more complete phenotypic description and information on genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

MECKEL SYNDROME, TYPE 4; MKS4 Is also known as meckel-gruber syndrome, type 4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Intrauterine growth retardation
  • Ventricular septal defect
  • Hypoplasia of the corpus callosum


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 4; MKS4

Medium match MECKEL SYNDROME, TYPE 8; MKS8


Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Low-set ears
  • Talipes equinovarus
  • Short neck


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 8; MKS8

Medium match CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3


Cerebrooculofacioskeletal syndrome is a severe, progressive neurologic disorder characterized by prenatal onset of arthrogryposis, microcephaly, and growth failure. Postnatal features include severe developmental delay, congenital cataracts (in some), and marked UV sensitivity of the skin. Survival beyond 6 years of age is rare. COFS represents the severe end of the spectrum of disorders caused by mutations in nucleotide excision repair (NER) genes, with Cockayne syndrome and xeroderma pigmentosum being milder NER-related phenotypes (summary by Drury et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of cerebrooculofacioskeletal syndrome, see COFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 3; COFS3

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 HOLOPROSENCEPHALY 5; HPE5


Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

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

Symptoms // Phenotype % cases
Postaxial hand polydactyly Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Anencephaly Uncommon - Between 30% and 50% cases
Occipital encephalocele Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Encephalocele Cleft upper lip Cleft lip Global developmental delay Intrauterine growth retardation Cataract Postaxial polydactyly Renal cyst Anophthalmia Bowing of the long bones Hydrocephalus Bile duct proliferation Low-set ears

Rare Symptoms - Less than 30% cases


Ptosis Coloboma Renal dysplasia Bifid uvula Oral cleft Short nose Iris coloboma Broad forehead Talipes equinovarus Dandy-Walker malformation Submucous cleft hard palate Intellectual disability Meningoencephalocele Meningocele Growth delay Micrognathia Abnormality of the kidney Bilateral cleft lip and palate Bilateral cleft lip Agenesis of corpus callosum Cryptorchidism Unilateral cleft lip Arrhinencephaly Abnormality of the respiratory system Abnormality of the sense of smell Abnormality of the fallopian tube Polyhydramnios Absent septum pellucidum Laryngomalacia Premature birth Micromelia Low-set, posteriorly rotated ears Deeply set eye Retrognathia Gingival cleft Abnormality of cardiovascular system morphology Rocker bottom foot Cutaneous photosensitivity Decreased fetal movement Brain atrophy Tracheal atresia Synophrys Hypertelorism Hypotelorism Small posterior fossa Proboscis Cyclopia Single median maxillary incisor Scaphocephaly Facial cleft Abnormality of digit Absent thumb Trigonocephaly Deep philtrum Holoprosencephaly Exotropia Narrow forehead Abnormal facial shape Microcornea Astigmatism Arthrogryposis multiplex congenita Hypermetropia Macrotia Upslanted palpebral fissure Midface retrusion Intellectual disability, severe Anteverted nares Abnormality of the skeletal system Macrocephaly Depressed nasal bridge High palate Congenital cataract Molar tooth sign on MRI Cerebellar hypoplasia Hematuria Amblyopia Hypoplasia of penis Hypogonadism Inguinal hernia Visual loss Blindness Neural tube defect Posterior embryotoxon Chorioretinal coloboma Retinal detachment Corneal opacity Anosmia Glaucoma Optic atrophy Visual impairment Sensorineural hearing impairment Strabismus Nystagmus Hearing impairment Postaxial foot polydactyly Abnormality of the urinary system Agenesis of pineal gland Gynecomastia External genital hypoplasia Edema Abnormality of the pinna Ventriculomegaly Flexion contracture Equinovarus deformity Hyperechogenic kidneys Enlarged kidney Pericardial effusion Polycystic kidney dysplasia Depressed nasal ridge Abdominal distention Narrow chest Short neck Misalignment of teeth Agenesis of cerebellar vermis Atrial septal defect Hypoplasia of the corpus callosum Ventricular septal defect Hypoplasia of the olfactory bulb Abnormality of the midface Absent nares Single naris Failure of eruption of permanent teeth Abdominal wall muscle weakness Hyposmia Exencephaly



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Colon cancer, related diseases and genetic alterations Intrauterine growth retardation and Coloboma, related diseases and genetic alterations Autoimmunity and Abnormality of the kidney, related diseases and genetic alterations Macrocephaly and Dysphagia, related diseases and genetic alterations High palate and Constipation, related diseases and genetic alterations

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