Cleft palate, and Mandibular prognathia

Diseases related with Cleft palate and Mandibular prognathia

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


Top matches:

Medium match WAARDENBURG SYNDROME TYPE 1


Waardenburg syndrome type 1 (WS1) is a subtype of Waardenburg syndrome (WS; see this term), disorder characterized by congenital deafness, minor defects in structures arising from neural crest resulting in pigmentation anomalies of eyes, hair, and skin, in combination with dystopia canthorum.

WAARDENBURG SYNDROME TYPE 1 Is also known as waardenburg syndrome type i|ws1

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG SYNDROME TYPE 1

Medium match CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME


Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

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

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Other less relevant matches:

Medium match BARBER-SAY SYNDROME


Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.

BARBER-SAY SYNDROME Is also known as bss|hypertrichosis-atrophic skin-ectropion-macrostomia syndrome|hypertrichosis, atrophic skin, ectropion, and macrostomia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BARBER-SAY SYNDROME

Medium match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Medium match CLEIDOCRANIAL DYSPLASIA; CCD


The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.See {168550} for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (OMIM ) and mandibuloacral dysplasia (OMIM ) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis.Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder.

CLEIDOCRANIAL DYSPLASIA; CCD Is also known as clcd|cleidocranial dysostosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA; CCD

Medium match WAARDENBURG SYNDROME, TYPE 3; WS3


Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).

WAARDENBURG SYNDROME, TYPE 3; WS3 Is also known as klein-waardenburg syndrome|waardenburg syndrome, type iii|waardenburg syndrome with upper limb anomalies

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 3; WS3

Medium match CLEIDOCRANIAL DYSPLASIA


Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

Medium match APERT SYNDROME


Apert syndrome (AS) is a frequent form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by craniosynostosis (see this term), midface hypoplasia, and finger and toe anomalies and/or syndactyly.

APERT SYNDROME Is also known as acrocephalosyndactyly type 1|acrocephalosyndactyly, type i|acs i|acs1

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about APERT SYNDROME

Medium match BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION


Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

Top 5 symptoms//phenotypes associated to Cleft palate and Mandibular prognathia

Symptoms // Phenotype % cases
Hypertelorism Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Underdeveloped nasal alae Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Midface retrusion High, narrow palate Delayed eruption of teeth Malar flattening Micrognathia Short stature Depressed nasal bridge Wide nasal bridge Synophrys Brachycephaly Abnormal facial shape Large fontanelles Sensorineural hearing impairment Telecanthus Prominent nasal bridge Genu valgum Hypoplasia of the maxilla Abnormality of the pinna Bifid uvula Proptosis Scoliosis Strabismus Abnormality of the dentition Abnormality of the skeletal system Sprengel anomaly Brachydactyly Ptosis Facial asymmetry Conductive hearing impairment

Rare Symptoms - Less than 30% cases


Syndactyly Hydrocephalus Convex nasal ridge Global developmental delay Growth delay Failure to thrive Talipes equinovarus Low-set ears Narrow chest Anteverted nares Cryptorchidism Skeletal dysplasia Respiratory distress Microcephaly Recurrent fractures Abdominal distention Intellectual disability, moderate Osteoporosis Generalized hypotonia Increased number of teeth Broad forehead Sparse eyebrow Hypoplastic scapulae Abnormality of the face Dental malocclusion Coxa vara Bulbous nose Wormian bones Short clavicles Narrow mouth White forelock Heterochromia iridis White hair Premature graying of hair Hypopigmented skin patches Short philtrum Thin vermilion border Atrial septal defect Prominent nose Aganglionic megacolon Blepharophimosis Choanal atresia Ventricular septal defect Feeding difficulties in infancy Abnormality of the eye Abnormality of vision Short nose Cleft lip Abnormality of cardiovascular system morphology Congenital sensorineural hearing impairment Cleft upper lip 2-3 toe syndactyly Abnormal palate morphology Hypopigmentation of the skin Abnormality of skin pigmentation Anorexia Asymmetry of the thorax Joint contracture of the hand Paraplegia Scapular winging Thick vermilion border Premature birth Abdominal wall defect Dacryocystitis Carious teeth Hemihypertrophy Recurrent respiratory infections Clinodactyly of the 5th finger Visceromegaly Macrocephaly Poliosis Partial albinism Albinism Narrow naris Bronchomalacia Atelectasis Arthrogryposis multiplex congenita Carpal synostosis Vitiligo Cutaneous finger syndactyly Blue irides Flexion contracture Spastic paraplegia Auricular pit Parietal foramina Delayed eruption of permanent teeth Hemifacial hypertrophy Posterior helix pit Cervical ribs Aplastic clavicle Short middle phalanx of the 5th finger Absent frontal sinuses Spondylolisthesis Osteolytic defects of the phalanges of the hand Hypoplastic iliac wing Abnormality of the clavicle Cone-shaped epiphyses of the phalanges of the hand Syringomyelia Delayed eruption of primary teeth Parietal bossing Camptodactyly of finger Long second metacarpal Clinodactyly Vomiting Intellectual disability, severe Sloping forehead Anterior creases of earlobe Abnormal facility in opposing the shoulders Persistent open anterior fontanelle Hypoplastic frontal sinuses Wide pubic symphysis Delayed pubic bone ossification Absent paranasal sinuses Short middle phalanx of the 2nd finger Large foramen magnum Spondylolysis Moderately short stature Tapered finger Sleep apnea Abnormality of the ribs Ovarian neoplasm Brachyturricephaly Cloverleaf skull Ectopic anus Corneal erosion Esophageal atresia Aplasia/Hypoplasia of the thumb Absent septum pellucidum Cervical C5/C6 vertebrae fusion Vertebral segmentation defect Arnold-Chiari malformation Narrow palate Broad thumb Flat face Neonatal hypoglycemia Enlarged kidney Morphological abnormality of the semicircular canal Acrobrachycephaly Micromelia Patent ductus arteriosus Macroglossia Hematuria Abnormality of the kidney Deeply set eye Jaundice Umbilical hernia Polyhydramnios Overgrowth Epicanthus Cardiomegaly Abnormality of the outer ear Splenomegaly Nephroblastoma Large for gestational age Hepatomegaly Abnormality of the ureter Nevus flammeus Toe syndactyly Abnormality of epiphysis morphology Open bite Dystrophic toenail Mild global developmental delay Decreased skull ossification Down-sloping shoulders Hypoplasia of the zygomatic bone Hearing abnormality Glossoptosis Chronic otitis media Abnormality of the thumb Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Full cheeks Spina bifida occulta Abnormality of dental enamel Hemivertebrae Sinusitis Dystrophic fingernails Dimple chin Finger syndactyly Hypertension Agenesis of corpus callosum Ventriculomegaly Capillary hemangioma Downslanted palpebral fissures Abnormal eyebrow morphology Diastasis recti Optic atrophy Visual impairment Abnormal sacrum morphology Neck muscle hypoplasia Cervical segmentation defect Short face Shoulder muscle hypoplasia Hypoplastic inferior ilia Rib segmentation abnormalities Cervical C2/C3 vertebral fusion Respiratory insufficiency Intellectual disability, profound Thickened calvaria Craniofacial dysostosis Rigidity Hypospadias Short neck Calcaneonavicular fusion Hallux varus Broad metatarsal Anterior plagiocephaly Microtia Abnormality of fibula morphology Symphalangism affecting the phalanges of the hand Broad hallux phalanx Preaxial foot polydactyly Turricephaly Split foot Shallow orbits Wide mouth Dry skin Broad hallux Low anterior hairline Redundant skin Atresia of the external auditory canal Dermal atrophy Hyperextensible skin Cutis laxa Generalized hirsutism Sparse and thin eyebrow Hirsutism Abnormality of the genital system Depressed nasal ridge Hypertrichosis Microdontia Abnormality of the skin Ectodermal dysplasia Triangular face Underdeveloped supraorbital ridges Short metatarsal Cupped ear White eyebrow Abnormal cardiac septum morphology Coloboma Protruding ear Inguinal hernia Hernia Abnormality of metabolism/homeostasis White eyelashes Renal hypoplasia Lacrimation abnormality Meningocele Hypopigmentation of hair Tented upper lip vermilion Spina bifida Abnormality of the hair Thick eyebrow Anal atresia Short palpebral fissure Acanthosis nigricans Median cleft palate Epidermal acanthosis Craniosynostosis Headache Bilateral choanal atresia/stenosis Lower eyelid coloboma Bilateral choanal atresia Unilateral cleft lip Renal dysplasia Secundum atrial septal defect Hypomimic face Eyelid coloboma External ear malformation Mixed hearing impairment Narrow palpebral fissure Preauricular skin tag Ectropion Aplasia/Hypoplasia of the eyebrow Short femoral neck Narrow face Slender finger Long fingers Disproportionate tall stature Decreased muscle mass Nasal speech Spontaneous abortion Hyperpigmentation of the skin Slender build Dental crowding Tall stature Broad-based gait Thick lower lip vermilion High myopia Wide intermamillary distance Webbed neck Epileptic spasms Hyperextensibility of the finger joints Postural instability Recurrent otitis media Neonatal respiratory distress Cone-shaped epiphysis Increased susceptibility to fractures Short ribs Increased bone mineral density Hypoplasia of dental enamel Otitis media Small earlobe Pes planus Kyphosis Asymmetry of the ears Long palm Focal motor seizures Narrow palm Long hallux Generalized myoclonic seizures Unsteady gait Long nose Sparse or absent eyelashes Frontal hirsutism Mild hearing impairment Abnormality of female external genitalia Generalized hypertrichosis Broad alveolar ridges Breast aplasia Gingival fibromatosis Abnormality of male external genitalia Absent nipple Skin tags Taurodontia Inverted nipples Shawl scrotum Hypoplastic nipples Aplasia/Hypoplasia of the skin Ablepharon Seizures Arachnodactyly Myoclonus Smooth philtrum Abnormality of movement Pectus carinatum Camptodactyly Difficulty walking Kyphoscoliosis Pectus excavatum Muscular hypotonia Absent speech Gait disturbance Myopia Dysarthria Delayed speech and language development High palate Cognitive impairment Congenital megaureter



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