Cleft palate, and Hypotelorism

Diseases related with Cleft palate and Hypotelorism

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


Top matches:

Medium match HOLOPROSENCEPHALY 4; HPE4


A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis.

Related symptoms:

  • Ptosis
  • Depressed nasal bridge
  • Hypotelorism
  • Median cleft lip
  • Depressed nasal tip


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 4; HPE4

Medium match CRANIOSYNOSTOSIS, BOSTON TYPE


Craniosynostosis, Boston type is a form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal.

CRANIOSYNOSTOSIS, BOSTON TYPE Is also known as csb|warman-mulliken-hayward syndrome|craniosynostosis, warman type|craniosynostosis, boston-type

Related symptoms:

  • Seizures
  • Brachydactyly
  • Myopia
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOSYNOSTOSIS, BOSTON TYPE

Medium match HOLOPROSENCEPHALY 11; HPE11


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Cleft palate
  • Agenesis of corpus callosum
  • Proptosis


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 11; HPE11

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Other less relevant matches:

Medium match HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of autosomal hypogonadotropic hypogonadism with or without anosmia, see {147950}.

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA; HH3

Medium match POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME


Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME Is also known as pallister-hall syndrome 2, formerly|culler-jones syndrome|phs2, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME

Medium match HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia.'For information on the autosomal forms of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1 Is also known as anosmic hypogonadism|hha|kallmann syndrome 1|dysplasia olfactogenitalis of de morsier|hypogonadotropic hypogonadism and anosmia|kms|kal1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1

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 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

Medium match HOLOPROSENCEPHALY 7; HPE7


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

Medium match HOLOPROSENCEPHALY 2; HPE2


A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 2; HPE2

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

Symptoms // Phenotype % cases
Holoprosencephaly Common - Between 50% and 80% cases
Cleft lip Uncommon - Between 30% and 50% cases
Oral cleft Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Midface retrusion Microcephaly Agenesis of corpus callosum Macrocephaly Anteverted nares Depressed nasal bridge High palate Alobar holoprosencephaly Abnormal facial shape Hearing impairment Cryptorchidism Hypogonadism Micropenis Short nose Microphthalmia Single median maxillary incisor Intellectual disability Ptosis Proboscis Median cleft lip and palate Absent nasal septal cartilage

Rare Symptoms - Less than 30% cases


Cyclopia Depressed nasal tip Cleft upper lip Hypogonadotrophic hypogonadism Anosmia Unilateral renal agenesis Upslanted palpebral fissure Macrotia Coloboma Astigmatism Broad forehead Microcornea Exotropia Bilateral cryptorchidism Diabetes insipidus Panhypopituitarism Microphallus Median cleft lip Abnormality of the eye Low-set ears Semilobar holoprosencephaly Brachydactyly Hydrocephalus Hypertelorism Trigonocephaly Hypermetropia Synophrys Narrow forehead Growth hormone deficiency Downslanted palpebral fissures Sensorineural hearing impairment Frontal bossing Abnormality of digit Aglossia Transposition of the great arteries Laryngeal hypoplasia Scaphocephaly Abnormality of the skeletal system Facial cleft Absent thumb Stenosis of the external auditory canal Hypoplasia of the epiglottis Tracheomalacia Deep philtrum Mandibular aplasia Intellectual disability, severe Microglossia Hyperplasia of the maxilla Synotia Partial agenesis of the corpus callosum Small posterior fossa Constipation Generalized hypotonia Scoliosis Nystagmus Strabismus Muscular hypotonia Cataract Malar flattening Cerebellar hypoplasia Fusion of the left and right thalami Bifid uvula Narrow nasal bridge Submucous cleft hard palate Adrenal hypoplasia Chronic constipation Single ventricle Hypoplastic philtrum Aplasia of the nose Flat nasal alae Hypoplasia of the premaxilla Exencephaly Prominent nose Epicanthus Wide nasal bridge Thin upper lip vermilion Protruding ear Smooth philtrum Iris coloboma Highly arched eyebrow Dental malocclusion Parietal bossing Omphalocele Flat occiput Abnormality of the outer ear Bilateral cleft lip Bilateral cleft lip and palate Broad face Bilateral microphthalmos Midline defect of the nose Atresia of the external auditory canal Olfactory lobe agenesis Situs inversus totalis Pain Polysplenia Pectus excavatum Pes planus Primary amenorrhea Short stature Growth delay Delayed skeletal maturation Proptosis Abdominal pain Polydactyly Postaxial polydactyly Depressed nasal ridge High pitched voice Hypopituitarism Poor appetite Thick eyebrow Unicoronal synostosis Anterior pituitary hypoplasia Visual field defect Myopia Headache Brachycephaly Craniosynostosis Dolichocephaly Wormian bones Triphalangeal thumb Increased number of teeth Bicoronal synostosis Turricephaly Coronal craniosynostosis Cleft soft palate Cloverleaf skull Anterior plagiocephaly Brachyturricephaly Metopic synostosis Adrenocorticotropic hormone deficiency Bilateral postaxial polydactyly Intestinal malrotation Abnormal heart morphology Decreased circulating follicle stimulating hormone level Leydig cell insensitivity to gonadotropin Total anosmia Micrognathia Talipes equinovarus Respiratory distress Atrial septal defect Posteriorly rotated ears Decreased circulating luteinizing hormone level Narrow mouth Polyhydramnios Retrognathia Conductive hearing impairment Anal atresia Pulmonary hypoplasia Hypoplasia of the maxilla Hypothalamic gonadotropin-releasing hormone deficiency Eunuchoid habitus Ectopic posterior pituitary Decreased testicular size Ataxia Pes cavus Delayed puberty Abnormality of eye movement Facial asymmetry Ichthyosis Renal agenesis Gynecomastia Bilateral renal agenesis Azoospermia Anodontia Sparse pubic hair Hyposmia Abnormal renal morphology Testicular atrophy Bimanual synkinesia Anterior pituitary agenesis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Psychosis, related diseases and genetic alterations Brachydactyly and Coarse facial features, related diseases and genetic alterations Visual impairment and Talipes, related diseases and genetic alterations Myopathy and Neutropenia, related diseases and genetic alterations

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