Cleft palate, and Short palm

Diseases related with Cleft palate and Short palm

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


Top matches:

Medium match OTOPALATODIGITAL SYNDROME TYPE 1


Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.

OTOPALATODIGITAL SYNDROME TYPE 1 Is also known as opd syndrome 1|opd i syndrome|taybi syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about OTOPALATODIGITAL SYNDROME TYPE 1

Medium match SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015).For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2; CSCSC2

Medium match PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE


Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.

PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE Is also known as platyspondylic dysplasia, torrance-luton type|thanatophoric dysplasia, torrance variant|lethal short-limbed platyspondylic dwarfism, torrance type|platyspondylic lethal skeletal dysplasia, torrance type|plsd-t

Related symptoms:

  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Macrocephaly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PLATYSPONDYLIC DYSPLASIA, TORRANCE TYPE

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Other less relevant matches:

Medium match OROFACIODIGITAL SYNDROME TYPE 2


Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.

OROFACIODIGITAL SYNDROME TYPE 2 Is also known as oral-facial-digital syndrome, type ii|ofd2|orofaciodigital syndrome ii|oral-facial-digital syndrome type 2|ofds ii|mohr syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 2

Medium match AARSKOG-SCOTT SYNDROME


Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

Medium match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

Medium match FIBROCHONDROGENESIS


Fibrochondrogenesis is a rare, neonatally lethal, rhizomelic chondrodysplasia. Eleven cases have been reported. The face is distinctive and characterized by protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins have been reported.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBROCHONDROGENESIS

Medium match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA


Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Is also known as chondrodystrophy with sensorineural deafness|weissenbacher-zweymuller syndrome, formerly|nance-insley syndrome|osmed|nance-sweeney chondrodysplasia|wzs, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA

Medium match OTOPALATODIGITAL SYNDROME, TYPE I; OPD1


Otopalatodigital syndrome-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include frontometaphyseal dysplasia (FMD1 ), otopalatodigital syndrome-2 (OPD2 ), and Melnick-Needles syndrome (MNS ), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.'

OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 Is also known as opd syndrome 1|opd i syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOPALATODIGITAL SYNDROME, TYPE I; OPD1

Medium match AUTOSOMAL DOMINANT ROBINOW SYNDROME


Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Short palm

Symptoms // Phenotype % cases
Hypertelorism Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Clinodactyly of the 5th finger

Common Symptoms - More than 50% cases


Malar flattening

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures

Common Symptoms - More than 50% cases


Wide nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Pectus excavatum Midface retrusion Short neck Micromelia Short nose Bifid tongue Long philtrum Anteverted nares Syndactyly Oligodontia Skeletal dysplasia Brachydactyly Scoliosis Abnormal vertebral segmentation and fusion Platyspondyly Camptodactyly of finger Flat face Broad forehead Small hand Strabismus Flared metaphysis Limb undergrowth Anodontia Narrow mouth Short distal phalanx of finger Severe short stature Hypoplasia of the maxilla Bowing of the long bones Synostosis of carpal bones Epicanthus Intellectual disability Abnormal form of the vertebral bodies Elbow dislocation Prominent supraorbital ridges Generalized hypotonia Abnormality of the skeletal system Proptosis Cryptorchidism Short foot Short long bone Conductive hearing impairment Frontal bossing

Rare Symptoms - Less than 30% cases


Bifid uvula Ptosis Hypoplastic ischia Broad nasal tip Cognitive impairment High, narrow palate Inguinal hernia Short phalanx of finger Coxa valga Hip dislocation Short 5th metacarpal Thoracic hypoplasia Rhizomelia Omphalocele Abnormality of the metaphysis Pectus carinatum Myopia Specific learning disability Umbilical hernia Short metacarpal Hypoplastic scapulae Wide nose Bulbous nose Toe syndactyly Clinodactyly Megalocornea Round face Finger syndactyly Metaphyseal cupping Retrognathia Protuberant abdomen Abnormality of the metacarpal bones Posteriorly rotated ears Hypospadias Pes planus Macrocephaly Prominent forehead Intellectual disability, mild Narrow chest Low-set, posteriorly rotated ears Increased bone mineral density Limitation of joint mobility Abnormality of the pinna Sandal gap Hydrops fetalis Short ribs Upslanted palpebral fissure Proximal placement of thumb Hypoplastic frontal sinuses Thin ribs Microcephaly Thickened calvaria Short thumb Abnormality of the tarsal bones Global developmental delay Short hallux Otitis media Epiphyseal dysplasia Widely patent sagittal suture Sensorineural hearing impairment Depressed nasal ridge Abnormal joint morphology Flexion contracture Ventricular septal defect Kyphosis Mixed hearing impairment Delayed skeletal maturation Osteoarthritis Posterior vertebral hypoplasia Arthralgia Muscular hypotonia of the trunk Feeding difficulties in infancy Hyperlordosis Joint stiffness Retinal detachment Encephalocele Recurrent pneumonia Lumbar hyperlordosis Abnormality of the skin Narrow greater sacrosciatic notches Widely patent coronal suture Hypoplastic toenails Prominent frontal sinuses Aplasia/Hypoplasia of the maxilla Cataract Respiratory insufficiency Seizures Camptodactyly High myopia Abnormality of the ribs Wide anterior fontanel Joint contracture of the hand Plagiocephaly Patent foramen ovale Fibular hypoplasia Pear-shaped vertebrae Bell-shaped thorax Hearing abnormality Hypoplastic fingernail Broad ribs Abnormal diaphysis morphology Long clavicles Anterior rib cupping Broad long bones Occipital encephalocele Thin clavicles Posterior rib cupping Dumbbell-shaped long bone Broad ischia Disproportionate short stature Enlarged joints Glossoptosis Hypoplasia of penis Sacral dimple Coxa vara Hemivertebrae Gingival overgrowth Long eyelashes Blue sclerae Hip dysplasia Long palpebral fissure Hypodontia Downturned corners of mouth Short philtrum Alopecia Abnormality of the fifth metatarsal bone Long second metacarpal Open bite Increased number of teeth Bulbous tips of toes Abnormality of the gingiva Naevus flammeus of the eyelid Euryblepharon Abnormality of the penis Ridged fingernail Curly eyelashes Hypoplastic labia minora Clitoral hypoplasia Capillary hemangioma Median cleft lip and palate Epispadias Fingernail dysplasia Femoral hernia Avascular necrosis of the capital femoral epiphysis Hypoplastic labia majora Lateral femoral bowing Thick skull base Meningocele Prominent interphalangeal joints Nail dysplasia Nail dystrophy Growth delay Aplasia/Hypoplasia of the capital femoral epiphysis Large tarsal bones Abnormal lacrimal duct morphology Enlarged epiphyses Congenital hip dislocation Premature osteoarthritis Coronal cleft vertebrae Antegonial notching of mandible Beaking of vertebral bodies Vitreoretinopathy Pierre-Robin sequence Broad thumb Finger clinodactyly Limited knee flexion Absent frontal sinuses Accessory carpal bones Bipartite calcaneus Broad distal phalanx of the thumb Capitate-hamate fusion Short 3rd metacarpal Multiple impacted teeth Selective tooth agenesis Abnormality of the genitourinary system Delayed closure of the anterior fontanelle Broad face Short 4th metacarpal Dislocated radial head Limited elbow extension Prominent occiput Broad hallux Bidirectional ventricular ectopy First degree atrioventricular block Muscle fiber tubular inclusions Accessory oral frenulum Preaxial hand polydactyly Atrioventricular canal defect Abnormality of digit Natal tooth Median cleft lip Arachnoid cyst Postaxial foot polydactyly Abnormality of finger Ureterocele Preaxial foot polydactyly Bifid nasal tip Abnormality of the larynx Complete atrioventricular canal defect Porencephalic cyst Bilateral postaxial polydactyly Preaxial polydactyly Broad neck Behavioral abnormality Abnormality of the dentition Congestive heart failure Short palpebral fissure Scrotal hypoplasia Overfolded helix Partial duplication of the phalanges of the hallux Lobulated tongue Agenesis of central incisor Talon cusp Mesoaxial polydactyly Tongue nodules Hypoplasia of the epiglottis Common atrium Metaphyseal irregularity Tachypnea Abnormality of cardiovascular system morphology Neonatal short-limb short stature Severe limb shortening Decreased cranial base ossification Disc-like vertebral bodies Severe platyspondyly Hypoplastic pubic bone Abnormality of the carpal bones Abnormality of the abdominal wall High palate Genu varum Hypoplasia of the capital femoral epiphysis Short thorax Lethal skeletal dysplasia Hypoplastic ilia Hypoplastic pelvis Disproportionate short-limb short stature Talipes equinovarus Wormian bones Cleft lip Postaxial hand polydactyly Polyhydramnios Abnormal cerebellum morphology Coarse facial features Postaxial polydactyly Apnea Telecanthus Hydrocephalus Polydactyly Agenesis of corpus callosum Pulmonary hypoplasia Abnormal heart morphology Abdominal distention Cerebellar atrophy Microdontia Wide intermamillary distance Effort-induced polymorphic ventricular tachycardias Scapular winging Short metatarsal Growth abnormality Ventricular arrhythmia Reduced tendon reflexes Abnormal palate morphology Ventricular tachycardia Bilateral single transverse palmar creases 2-3 toe syndactyly Cardiac arrest Delayed speech and language development Hypoplasia of dental enamel Palpitations Motor delay Febrile seizures Myotonia Right bundle branch block Syncope Periodic paralysis Periodic hypokalemic paresis Short mandibular rami Short digit Clinodactyly of the 5th toe Flat acetabular roof Delayed eruption of permanent teeth Abnormal T-wave Prolonged QT interval Abnormal atrioventricular conduction Torsade de pointes T-wave inversion Left bundle branch block Ventricular extrasystoles Short finger Hypoplasia of the corpus callosum Sudden cardiac death Microcornea Oral cleft Broad palm Hyperextensible skin Delayed eruption of teeth Single transverse palmar crease Everted lower lip vermilion Blepharophimosis Cleft upper lip External ear malformation Talipes Joint hyperflexibility Microtia Carious teeth Attention deficit hyperactivity disorder Tapered finger Shawl scrotum Broad foot Triangular face Thin upper lip vermilion Microphthalmia Thin vermilion border Limb muscle weakness Dolichocephaly Dilated cardiomyopathy Joint laxity Osteopenia Genu recurvatum Elevated serum creatine phosphokinase Arrhythmia Depressivity Abnormal facial shape Abnormality of the cervical spine High anterior hairline Onychogryposis of fingernail



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