Cleft palate, and Frontal bossing

Diseases related with Cleft palate and Frontal bossing

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


Top matches:

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 OROFACIODIGITAL SYNDROME TYPE 5


Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

OROFACIODIGITAL SYNDROME TYPE 5 Is also known as polydactyly postaxial with median cleft of upper lip|oral-facial-digital syndrome type 5|polydactyly, postaxial, with median cleft of upper lip|oral-facial-digital syndrome, type v|thurston syndrome|ofd5|orofaciodigital syndrome, thurston type|ofds v

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 5

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Other less relevant matches:

Medium match ATELOSTEOGENESIS TYPE III


Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

ATELOSTEOGENESIS TYPE III Is also known as aoiii|ao3|atelosteogenesis type 3

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS TYPE III

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 ANTLEY-BIXLER SYNDROME


Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

Medium match JOUBERT SYNDROME 26; JBTS26


Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

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 JACKSON-WEISS SYNDROME; JWS


JACKSON-WEISS SYNDROME; JWS Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about JACKSON-WEISS SYNDROME; JWS

Medium match IMAGE SYNDROME


IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Frontal bossing

Symptoms // Phenotype % cases
Hypertelorism Uncommon - Between 30% and 50% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Craniosynostosis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Micropenis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Proptosis Scoliosis Intellectual disability Depressed nasal bridge Ptosis Turricephaly Hydrocephalus Anteverted nares Brachydactyly Short nose Global developmental delay

Rare Symptoms - Less than 30% cases


Abnormality of the pinna Sensorineural hearing impairment Growth hormone deficiency Cleft lip Narrow chest Micromelia Rhizomelia Macrocephaly Femoral bowing Underdeveloped supraorbital ridges Molar tooth sign on MRI Malar flattening Hypoplasia of the maxilla Hearing impairment Epicanthus Median cleft lip Strabismus Hypospadias Micrognathia Panhypopituitarism Postaxial polydactyly Headache Downslanted palpebral fissures Polydactyly Agenesis of corpus callosum Anterior plagiocephaly Hypotelorism Brachycephaly Adrenal insufficiency Holoprosencephaly Flat occiput Partial agenesis of the corpus callosum Bilateral cleft lip Depressed nasal tip Metaphyseal dysplasia Intrauterine growth retardation Bilateral cleft lip and palate Broad face Dental malocclusion Bilateral cryptorchidism Bilateral microphthalmos Median cleft lip and palate Single median maxillary incisor Midline defect of the nose Parietal bossing Omphalocele Primary adrenal insufficiency Prominent nose Upslanted palpebral fissure Central hypothyroidism Ectopic posterior pituitary Inferior vermis hypoplasia Metaphyseal cupping Microcephaly High palate Wide nasal bridge Microphthalmia Macrotia Highly arched eyebrow Thin upper lip vermilion Protruding ear Broad forehead Smooth philtrum Adrenal hypoplasia Oral cleft Epiphyseal dysplasia Iris coloboma Semilobar holoprosencephaly Hypoplasia of the premaxilla Alobar holoprosencephaly Respiratory tract infection Preaxial foot polydactyly Broad hallux phalanx Muscular dystrophy Symphalangism affecting the phalanges of the hand Abnormality of fibula morphology Craniofacial dysostosis Broad metatarsal Hallux varus Calcaneonavicular fusion Split foot Postnatal growth retardation Growth delay Abnormal facial shape Hydronephrosis Hypogonadism Prominent forehead Muscular hypotonia Cryptorchidism Delayed skeletal maturation Bilateral sensorineural hearing impairment Shallow orbits Hypercalcemia Abnormality of the skeletal system Low-set ears Hypercalciuria Short long bone Nephrocalcinosis Hypocalcemia Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Syndactyly Abnormality of the genital system Mandibular prognathia Genu valgum Convex nasal ridge Epidermal acanthosis Acanthosis nigricans Abnormal palate morphology Short metatarsal 2-3 toe syndactyly Bilateral ptosis Broad hallux Choanal atresia Recurrent upper respiratory tract infections Upper airway obstruction Postaxial foot polydactyly Lobulated tongue Premature birth High myopia Metaphyseal widening Glossoptosis Hypoplastic scapulae Short femur Dumbbell-shaped long bone Aganglionic megacolon Talipes equinovarus Short neck Severe short stature Skeletal dysplasia Sandal gap Disproportionate short-limb short stature Elbow dislocation Prominent occiput Horseshoe kidney Postaxial hand polydactyly Radial bowing Increased number of teeth Myopia Dolichocephaly Hypermetropia Narrow forehead Wormian bones Trigonocephaly Triphalangeal thumb Visual field defect Coronal craniosynostosis Bifid uvula Cleft soft palate Cloverleaf skull Brachyturricephaly Metopic synostosis Bicoronal synostosis Unicoronal synostosis Ventricular septal defect Abnormal heart morphology Cleft upper lip Tibial bowing Flat acetabular roof Cone/cone-rod dystrophy Short stature Arachnodactyly Recurrent fractures Abnormality of the ribs Delayed cranial suture closure Hypoplasia of the zygomatic bone Abnormal renal morphology Narrow pelvis bone Elbow ankylosis Generalized hypotonia Camptodactyly of finger Ataxia Nystagmus Recurrent infections Cerebellar hypoplasia Hypothyroidism Apraxia Oculomotor apraxia Tachypnea Talipes Joint stiffness Knee dislocation Renal cyst Cervical kyphosis Hitchhiker thumb Horizontal sacrum Cervical segmentation defect Widened distal phalanges Tombstone-shaped proximal phalanges Patent ductus arteriosus Retrognathia Encephalocele Low-set, posteriorly rotated ears Heterotopia Exotropia Narrow palpebral fissure Sacral dimple Occipital encephalocele Anencephaly Long philtrum Abnormality of cardiovascular system morphology Narrow mouth Congenital adrenal hypoplasia



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