Cleft palate, and Craniosynostosis

Diseases related with Cleft palate and Craniosynostosis

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


Top matches:

Low 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

Low match MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3


Related symptoms:

  • Cleft palate
  • Flexion contracture
  • Syndactyly
  • Proptosis
  • Craniosynostosis


SOURCES: MESH OMIM MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME 3; SYNS3

Low match CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE


Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.

CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE Is also known as gpapp deficiency

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME


Autosomal dominant multiple pterygium syndrome is a rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.

AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME Is also known as distal arthrogryposis type 8|multiple pterygium syndrome, autosomal dominant|pterygium syndrome, multiple, autosomal dominant

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Ptosis
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT MULTIPLE PTERYGIUM SYNDROME

Low 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

Low match SWEENEY-COX SYNDROME; SWCOS


Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

Low 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

Low match RICHIERI COSTA-PEREIRA SYNDROME


Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.

RICHIERI COSTA-PEREIRA SYNDROME Is also known as short stature-pierre robin syndrome-cleft mandible-hand anomalies clubfoot syndrome|richieri-costa-pereira syndrome|rcps|short stature-pierre robin sequence-cleft mandible-hand anomalies clubfoot syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RICHIERI COSTA-PEREIRA SYNDROME

Low 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

Low match AUTOSOMAL DOMINANT HYPER-IGE SYNDROME


Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

AUTOSOMAL DOMINANT HYPER-IGE SYNDROME Is also known as autosomal dominant hyperimmunoglobulin e syndrome|hyperimmunoglobulin e syndrome type 1|ad-hies|buckley syndrome|stat3 deficiency|job syndrome|hyperimmunoglobulin e-recurrent infection syndrome|autosomal dominant hies

Related symptoms:

  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Fever
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPER-IGE SYNDROME

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

Symptoms // Phenotype % cases
Frontal bossing Uncommon - Between 30% and 50% cases
Proptosis Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
Narrow mouth Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Turricephaly Abnormal facial shape Cutaneous syndactyly Wide nasal bridge Short nose Scoliosis Short stature Hearing impairment Global developmental delay Low-set ears Hypertelorism Downslanted palpebral fissures Brachycephaly

Rare Symptoms - Less than 30% cases


High palate Growth delay Prominent forehead Underdeveloped supraorbital ridges Recurrent fractures Talipes Narrow chest Cryptorchidism Talipes equinovarus Genu valgum Short metacarpal Bilateral talipes equinovarus Strabismus Ptosis Low-set, posteriorly rotated ears Abnormal palate morphology Midface retrusion Choanal atresia Brachydactyly Hallux varus Headache Broad hallux Dolichocephaly Coronal craniosynostosis Depressed nasal bridge Flexion contracture Anterior plagiocephaly Bifid uvula Cleft lower alveolar ridge Cleft mandible Limb undergrowth Sensorineural hearing impairment Webbed neck Prominent nose Muscular hypotonia Hip dislocation Protruding ear Clinodactyly of the 5th finger Abnormality of the aryepiglottic fold Intrauterine growth retardation Macrocephaly Respiratory distress Hypospadias Feeding difficulties Short phalanx of finger Tibial deviation of toes Pansynostosis Abnormality of the outer ear Fibular hypoplasia Hypoplasia of the ulna Proximal placement of thumb Abnormality of the voice Abnormality of the hand Pierre-Robin sequence Hypoplasia of the radius Short tibia Abnormality of the larynx Acetabular dysplasia Agenesis of mandibular central incisor Microretrognathia Hip subluxation Hypoplasia of the epiglottis Hoarse voice Radial deviation of the hand Absent foot Short thumb Mesomelia Aplasia of the epiglottis Seizures Nephrocalcinosis Delayed skeletal maturation Abnormality of the face Osteopenia Deeply set eye Skin rash Cough Papule Pruritus Joint hyperflexibility Delayed eruption of teeth Lymphoma Eczema Skin ulcer Recurrent infections Abnormality of the hair Eosinophilia Chronic otitis media Osteomyelitis Skin vesicle Cellulitis Gingivitis Dystrophic fingernails Atelectasis Increased IgE level Paronychia Recurrent respiratory infections Dilatation Hypogonadism Broad metatarsal Micropenis Hydronephrosis Postnatal growth retardation Respiratory tract infection Muscular dystrophy Micromelia Growth hormone deficiency Bilateral sensorineural hearing impairment Abnormality of the genital system Hypocalcemia Short long bone Abnormality of the dentition Hypercalciuria Hypercalcemia Epiphyseal dysplasia Bilateral cryptorchidism Adrenal insufficiency Metaphyseal dysplasia Primary adrenal insufficiency Adrenal hypoplasia Metaphyseal cupping Congenital adrenal hypoplasia Fever Calcaneonavicular fusion Widow's peak Craniofacial dysostosis Elbow flexion contracture Short foot Short toe Joint dislocation Carpal synostosis Patellar dislocation Short neck Pectus excavatum Camptodactyly Arthrogryposis multiplex congenita Knee flexion contracture High forehead Hemivertebrae Pterygium Nasal speech Vertebral fusion Hip contracture Distal arthrogryposis Spondylolisthesis Multiple pterygia Anteverted nares Flat face Limited interphalangeal movement Abnormality of cardiovascular system morphology Cleft soft palate Myopia Hypermetropia Narrow forehead Hypotelorism Wormian bones Trigonocephaly Triphalangeal thumb Visual field defect Increased number of teeth Cloverleaf skull Metatarsal synostosis Brachyturricephaly Metopic synostosis Bicoronal synostosis Unicoronal synostosis Toe syndactyly Broad thumb Cubitus valgus Cutaneous syndactyly of toes Humeroradial synostosis Metacarpal synostosis Long philtrum Joint stiffness Abnormality of fibula morphology Abnormality of the pinna Asplenia Velopharyngeal insufficiency Median cleft palate Upper eyelid coloboma Intellectual disability Abnormality of the skeletal system Hydrocephalus Malar flattening Mandibular prognathia Hypoplasia of the maxilla Broad neck Convex nasal ridge Epidermal acanthosis Acanthosis nigricans Short metatarsal 2-3 toe syndactyly Shallow orbits Split foot Preaxial foot polydactyly Broad hallux phalanx Symphalangism affecting the phalanges of the hand Short columella Short clavicles Camptodactyly of finger Cerebellar hypoplasia Arachnodactyly Abnormality of the ribs Delayed cranial suture closure Femoral bowing Hypoplasia of the zygomatic bone Abnormal renal morphology Narrow pelvis bone Elbow ankylosis Delayed speech and language development Gastroesophageal reflux Prominent metopic ridge Microtia Short philtrum Anal atresia Hirsutism Underdeveloped nasal alae Wide anterior fontanel Generalized hirsutism Overfolded helix Cupped ear Long fingers Generalized abnormality of skin



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