Cleft palate, and Brachydactyly

Diseases related with Cleft palate and Brachydactyly

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


Top matches:

Low match ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9


Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Low-set ears
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9

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 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match MÜLLERIAN APLASIA AND HYPERANDROGENISM


Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence or underdevelopment of the uterus, and sometimes absence or underdevelopment of the vagina.

MÜLLERIAN APLASIA AND HYPERANDROGENISM Is also known as wnt4 deficiency|mÜllerian duct failure and hyperandrogenism|mullerian duct failure and hyperandrogenism

Related symptoms:

  • Short stature
  • Cleft palate
  • High palate
  • Brachydactyly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MÜLLERIAN APLASIA AND HYPERANDROGENISM

Low match TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER


TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Low match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Low match CZECH DYSPLASIA, METATARSAL TYPE


Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.

CZECH DYSPLASIA, METATARSAL TYPE Is also known as pseudorheumatoid dysplasia, progressive, with hypoplastic toes|spondyloepiphyseal dysplasia with precocious osteoarthritis|czech dysplasia, metatarsal type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • Pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CZECH DYSPLASIA, METATARSAL TYPE

Low match MCKUSICK-KAUFMAN SYNDROME


McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Low match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4


Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 Is also known as med4|multiple epiphyseal dysplasia, autosomal recessive|rmed|edm4|polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia with bilayered patellae|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia with clubfoot

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Cleft palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4

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

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Short metacarpal Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Clinodactyly

Rare Symptoms - Less than 30% cases


High palate Generalized hypotonia Abnormal facial shape Wide nasal bridge Proptosis Short toe Sensorineural hearing impairment Cryptorchidism Micromelia Flat capital femoral epiphysis Spondyloepiphyseal dysplasia Global developmental delay Growth abnormality Osteoarthritis Coronal craniosynostosis Arthralgia Skeletal dysplasia Flexion contracture Pain Scoliosis Shield chest Intellectual disability Arthritis Midface retrusion Abnormality of the skeletal system Low-set ears Seizures Frontal bossing Malar flattening Hip subluxation Barrel-shaped chest Ulnar deviation of the hand Microphallus Limited elbow flexion Ulnar deviation of the hand or of fingers of the hand Knee pain Abnormality of the knee Adrenal hypoplasia Multiple epiphyseal dysplasia Short finger Ventriculomegaly Platyspondyly Limitation of joint mobility Waddling gait Bilateral talipes equinovarus Depressed nasal tip Scrotal hypoplasia Hypospadias Oral cleft Agenesis of corpus callosum Polydactyly Micropenis Deeply set eye Cleft lip Abnormality of the pinna Cleft upper lip Postaxial polydactyly Aplasia/Hypoplasia of the corpus callosum Wide intermamillary distance Ambiguous genitalia Sandal gap Holoprosencephaly Hydrocephalus Abnormality of the patella Coxa vara Hypoplasia of the femoral head Hydrometrocolpos Metatarsus adductus Gait disturbance Anal atresia Tetralogy of Fallot Postaxial hand polydactyly Clinodactyly of the 5th finger Aganglionic megacolon Multicystic kidney dysplasia Talipes equinovarus Muscular hypotonia Rigidity Renal hypoplasia/aplasia Glandular hypospadias Abnormality of the metacarpal bones Hypoplastic left heart Tarsal synostosis Postaxial foot polydactyly Ectopic anus Urogenital sinus anomaly Finger syndactyly Small hand Urethral stricture Intervertebral space narrowing Short femoral neck Mild short stature Abnormal joint morphology Arthropathy Irregular vertebral endplates Thoracic kyphosis Narrow iliac wings Short middle phalanx of finger Periarticular calcification Hydronephrosis Narrow femoral neck Failure to thrive Metaphyseal irregularity Ventricular septal defect Epiphyseal dysplasia Hip dysplasia Atrial septal defect Patent ductus arteriosus Short metatarsal Absent speech Ankyloglossia Narrow mouth Cloverleaf skull Anterior plagiocephaly Brachyturricephaly Metopic synostosis Bicoronal synostosis Unicoronal synostosis Growth delay Short nose High forehead Turricephaly Genu valgum Flat face Short foot Joint dislocation Carpal synostosis Patellar dislocation Narrow chest Premature birth High myopia Cleft soft palate Increased number of teeth Metaphyseal widening Downslanted palpebral fissures Stroke Tachycardia Syncope Atrial fibrillation Ventricular tachycardia Ventricular extrasystoles Paroxysmal atrial fibrillation Thromboembolic stroke Myopia Headache Visual field defect Brachycephaly Craniosynostosis Dolichocephaly Hypermetropia Narrow forehead Hypotelorism Wormian bones Trigonocephaly Triphalangeal thumb Rhizomelia Femoral bowing Rotary nystagmus Visual impairment Facial hirsutism Aplasia of the vagina Aplasia/Hypoplasia of the fallopian tube Microcephaly Ataxia Nystagmus Spasticity Feeding difficulties Muscle weakness Frontal balding Pectus excavatum Kyphoscoliosis Joint laxity Pectus carinatum Toe syndactyly Abnormality of movement Chorea Blue sclerae Cerebral visual impairment Increased serum testosterone level Abnormal vagina morphology Glossoptosis Thick eyebrow Hypoplastic scapulae Short femur Upper airway obstruction Dumbbell-shaped long bone Short neck Obesity Protruding ear Short philtrum Synophrys Hirsutism Aplasia of the uterus Renal agenesis Amenorrhea Primary amenorrhea Cubitus valgus Acne Unilateral renal agenesis Hypoplasia of the uterus High anterior hairline Abnormality of the ovary Double-layered patella



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Lymphopenia, related diseases and genetic alterations Dysarthria and Gait disturbance, related diseases and genetic alterations Skeletal muscle atrophy and Autism, related diseases and genetic alterations Peripheral neuropathy and Arthralgia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more