Cleft palate, and Brachycephaly

Diseases related with Cleft palate and Brachycephaly

In the following list you will find some of the most common rare diseases related to Cleft palate and Brachycephaly 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 BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD


BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

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

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Other less relevant matches:

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

Medium 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

Medium match ACROMELIC FRONTONASAL DYSOSTOSIS; AFND


Verloes et al. (1992) described a rare variant of frontonasal dysplasia (see FND1, {136760}), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSOSTOSIS; AFND

Medium match PFEIFFER SYNDROME TYPE 3


Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 3

Medium match SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY; SRTD20

Medium match ACROMELIC FRONTONASAL DYSPLASIA


Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces ) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.

ACROMELIC FRONTONASAL DYSPLASIA Is also known as toriello syndrome|acromelic frontonasal dysostosis|afnd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMELIC FRONTONASAL DYSPLASIA

Medium match NATIVE AMERICAN MYOPATHY


Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Wide nasal bridge Depressed nasal bridge High palate Talipes Hearing impairment Seizures Craniosynostosis Narrow chest Anal atresia Midface retrusion Talipes equinovarus Ptosis Motor delay Short palpebral fissure Abnormality of the skeletal system Broad nasal tip Microcephaly Generalized hypotonia Ventriculomegaly Frontal bossing Short nose Telecanthus Downslanted palpebral fissures Myopia Choanal atresia Wide anterior fontanel

Rare Symptoms - Less than 30% cases


Multiple skeletal anomalies Sparse hair Microphthalmia Pulmonary hypoplasia Wide nose Delayed speech and language development Feeding difficulties Abnormal facial shape Syndactyly Bifid nose Microtia Polydactyly Preaxial foot polydactyly Upper airway obstruction Hypopituitarism Preaxial polydactyly Encephalocele Cleft lip Glaucoma Hypoplasia of the corpus callosum Bilateral talipes equinovarus Patellar hypoplasia Parietal foramina Large sella turcica Retrocerebellar cyst Choroid plexus cyst Respiratory insufficiency Bifid nasal tip Widow's peak Median cleft palate Agenesis of corpus callosum Coronal craniosynostosis Brachyturricephaly Narrow mouth Proptosis Epicanthus Narrow forehead Increased number of teeth Turricephaly Abnormality of the pinna Conductive hearing impairment Short stature Headache Hypoplastic pubic bone Long thorax Uterus didelphys Horizontal ribs Hamartoma of tongue Septate vagina Laryngeal hypoplasia Complete atrioventricular canal defect Decreased calvarial ossification Large posterior fontanelle Absent nasal bridge Narrow sacroiliac notch Esophageal diverticulum Macrocephaly Alopecia Hyperhidrosis Lateral clavicle hook Arachnodactyly Thoracic dysplasia Aqueductal stenosis Amblyopia Horseshoe kidney Increased intracranial pressure Arnold-Chiari malformation Laryngomalacia Tracheomalacia Stenosis of the external auditory canal Short hallux Broad hallux phalanx Hallux varus Short tibia Short neck Dolichocephaly Micropenis Oral cleft Postaxial polydactyly Tetralogy of Fallot Low posterior hairline Short ribs Natal tooth Fibular hypoplasia Upslanted palpebral fissure Wide mouth Hyperkeratosis Arthrogryposis multiplex congenita Skeletal muscle atrophy Myopathy Kyphosis Pectus excavatum Areflexia Hyporeflexia Kyphoscoliosis Proximal muscle weakness Facial palsy Blepharophimosis Abnormality of the foot Flexion contracture Long face Downturned corners of mouth Generalized muscle weakness Open mouth Tented upper lip vermilion Congenital contracture Gowers sign Myopathic facies Ankle contracture Malignant hyperthermia Fever Cognitive impairment Intestinal malrotation Alopecia totalis Cerebellar vermis hypoplasia Depressed nasal ridge Large fontanelles Hypohidrosis Sparse and thin eyebrow Sparse eyelashes Median cleft lip Meningocele Abnormal toenail morphology Calvarial skull defect Broad columella Muscle weakness Thick nasal alae Anterior pituitary hypoplasia Decreased lacrimation Dermoid cyst Aplasia/Hypoplasia of the tibia Hypoplasia of the olfactory bulb Midline central nervous system lipomas Abnormality of the glabella Scoliosis Growth delay Broad thumb Hydronephrosis Vesicoureteral reflux Bicornuate uterus Flat occiput Brittle hair Chorea Congenital diaphragmatic hernia Tetraparesis Long eyelashes Short chin Spastic tetraparesis Anophthalmia Hypoplastic left atrium Severe global developmental delay Bifid uvula Single transverse palmar crease Highly arched eyebrow Cerebellar hypoplasia Gastroesophageal reflux Thick eyebrow Short philtrum Autistic behavior Hirsutism Bilateral conductive hearing impairment Strabismus Generalized hirsutism Joint stiffness Abnormality of the ribs Camptodactyly of finger Delayed cranial suture closure Femoral bowing Underdeveloped supraorbital ridges Hypoplasia of the zygomatic bone Abnormal renal morphology Narrow pelvis bone Elbow ankylosis Low-set, posteriorly rotated ears Muscular hypotonia of the trunk Spasticity Abnormality of cardiovascular system morphology Long philtrum Ventricular septal defect Hydrocephalus Dystonia Anteverted nares Hernia Retrognathia Underdeveloped nasal alae Cutaneous syndactyly Limitation of joint mobility Hypotelorism Lipoma Broad foot Visual field defect Thick nail Triphalangeal thumb Trigonocephaly U-Shaped upper lip vermilion Wormian bones Frontal balding Midline defect of the nose Overlapping toe Hypermetropia Vertical clivus Respiratory distress High forehead Recurrent fractures Finger syndactyly Toe syndactyly Small hand Short foot Facial cleft Bilateral cryptorchidism Overfolded helix Intellectual disability, mild Cupped ear Long fingers Prominent metopic ridge Short clavicles Broad neck Short columella Asplenia Autism Velopharyngeal insufficiency Upper eyelid coloboma Cleft soft palate Anemia Unicoronal synostosis Brachydactyly Bicoronal synostosis Metopic synostosis Anterior plagiocephaly Cleft upper lip Cloverleaf skull Heterotopia Oligodontia Restrictive deficit on pulmonary function testing



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