Cleft palate, and Short metacarpal

Diseases related with Cleft palate and Short metacarpal

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


Top matches:

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

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 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

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Other less relevant matches:

Low match TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME


Temtamy preaxial brachydactyly syndrome is a rare, genetic dysostosis syndrome characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.

TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME Is also known as preaxial brachydactyly syndrome, temtamy type

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME

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 PELGER-HUET ANOMALY; PHA


Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Low match SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC


Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

Low match CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME


Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Low 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

Low 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

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Clinodactyly of the 5th finger Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Hypertelorism Clinodactyly Skeletal dysplasia Arthralgia Low-set ears Growth abnormality Generalized hypotonia Osteoarthritis Short 5th metacarpal Flexion contracture Short metatarsal Midface retrusion Abnormality of the skeletal system Short phalanx of finger Sensorineural hearing impairment Short toe Conductive hearing impairment Short nose Proptosis Strabismus Pierre-Robin sequence Malar flattening Ventricular septal defect Scoliosis

Rare Symptoms - Less than 30% cases


Arrhythmia Hip subluxation Delayed skeletal maturation Short finger Bilateral talipes equinovarus Optic atrophy Long philtrum Anteverted nares Intellectual disability Feeding difficulties Abnormality of the dentition Syndactyly Synophrys Downslanted palpebral fissures Abnormality of the hand Global developmental delay High palate Abnormal palate morphology Limb undergrowth Kyphosis Frontal bossing Depressed nasal bridge Failure to thrive Bulbous nose Mild short stature Posteriorly rotated ears Thin upper lip vermilion Palpitations Growth delay Narrow mouth High forehead Carpal synostosis Proportionate short stature Pain Arthritis Platyspondyly Epiphyseal dysplasia Spondyloepiphyseal dysplasia Hypoplasia of the maxilla Abnormal joint morphology Short palm Abnormal form of the vertebral bodies Flat capital femoral epiphysis Small hand Broad forehead Talipes equinovarus Toe syndactyly Arnold-Chiari malformation Depressivity Elevated serum creatine phosphokinase Retrognathia Joint laxity Dilated cardiomyopathy Dolichocephaly Dental malocclusion Brachycephaly Cognitive impairment Renal insufficiency Hydrocephalus Thin vermilion border Respiratory insufficiency Acanthosis nigricans Visual impairment Wide nose Limb muscle weakness Membranous nephropathy Short uvula Hypopigmentation of the skin Nevus Convex nasal ridge Increased intracranial pressure Laryngomalacia Glomerulonephritis Melanocytic nevus Epidermal acanthosis Aplasia/Hypoplasia of the cerebellum Turricephaly Choanal stenosis Migraine Cloverleaf skull Inflammatory abnormality of the eye Choanal atresia Dry skin Craniosynostosis Abnormality of the metacarpal bones Abnormal sacrum morphology Brachyturricephaly Bicoronal synostosis Craniofacial dysostosis Torsade de pointes High, narrow palate Abnormality of the skin Recurrent pneumonia Rhizomelia Encephalocele Abnormality of the metaphysis Depressed nasal ridge Lumbar hyperlordosis Otitis media Prominent supraorbital ridges Retinal detachment Micromelia Joint stiffness Hyperlordosis Feeding difficulties in infancy Muscular hypotonia of the trunk Short long bone Flared metaphysis Aplasia/Hypoplasia of the maxilla Enlarged joints Large tarsal bones Abnormal lacrimal duct morphology Prominent interphalangeal joints Enlarged epiphyses Premature osteoarthritis Coronal cleft vertebrae Beaking of vertebral bodies Mixed hearing impairment Vitreoretinopathy Meningocele Glossoptosis Synostosis of carpal bones Occipital encephalocele Disproportionate short stature Myopia Prominent frontal sinuses Triangular face Bilateral single transverse palmar creases Myotonia Ventricular arrhythmia Oligodontia Reduced tendon reflexes Ventricular tachycardia Scapular winging Cardiac arrest Right bundle branch block Hypoplasia of dental enamel Specific learning disability Febrile seizures Syncope Sudden cardiac death Broad nasal tip 2-3 toe syndactyly Prolonged QT interval Bidirectional ventricular ectopy Clinodactyly of the 5th toe Antegonial notching of mandible Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Periodic hypokalemic paresis Short mandibular rami Short digit First degree atrioventricular block Ventricular extrasystoles Delayed eruption of permanent teeth Periodic paralysis Abnormal T-wave Abnormal atrioventricular conduction Paroxysmal supraventricular tachycardia T-wave inversion Left bundle branch block Ptosis Short 3rd metacarpal Prominent sternum Hitchhiker thumb Double-layered patella Highly arched eyebrow Hypodontia Microdontia Bilateral sensorineural hearing impairment Blue sclerae Deep philtrum Radioulnar synostosis Tarsal synostosis Abnormality of digit Short hallux Diastema Talon cusp Hypoplasia of the femoral head Respiratory distress Protruding ear Hip dislocation Bifid uvula Prominent nose Webbed neck Short thumb Hoarse voice Microretrognathia Abnormality of the outer ear Hypoplasia of the radius Abnormality of the voice Proximal placement of thumb Abnormality of the patella Limited elbow flexion Mesomelia Irregular vertebral endplates Wide nasal bridge Genu valgum Flat face Short foot Joint dislocation Patellar dislocation Coronal craniosynostosis Limitation of joint mobility Waddling gait Coxa vara Short femoral neck Arthropathy Thoracic kyphosis Knee pain Narrow iliac wings Intervertebral space narrowing Periarticular calcification Narrow femoral neck Muscular hypotonia Gait disturbance Rigidity Hip dysplasia Metaphyseal irregularity Short middle phalanx of finger Metatarsus adductus Multiple epiphyseal dysplasia Abnormality of the knee Hypoplasia of the ulna Fibular hypoplasia Anterior open bite Tachycardia Ectopic calcification Lower limb hypertonia Giant platelets Median cleft palate Folate deficiency Hyposegmentation of neutrophil nuclei Pectus excavatum Abnormal heart morphology Osteopenia Low-set, posteriorly rotated ears Apnea Pulmonic stenosis Everted lower lip vermilion Short 4th metacarpal Narrow forehead Dental crowding Spina bifida occulta Sandal gap Infantile muscular hypotonia Sleep apnea Transposition of the great arteries Obstructive sleep apnea Supraventricular tachycardia 11 pairs of ribs Wolff-Parkinson-White syndrome Spondylolisthesis Perimembranous ventricular septal defect Abnormality of chromosome segregation Upper limb undergrowth Short tibia Macrocephaly Abnormality of the larynx Acetabular dysplasia Hypoplasia of the epiglottis Radial deviation of the hand Absent foot Tibial deviation of toes Aplasia of the epiglottis Agenesis of mandibular central incisor Pansynostosis Abnormality of the aryepiglottic fold Cleft lower alveolar ridge Cleft mandible Edema Acute lymphoblastic leukemia Thrombocytopenia Pes cavus Prominent forehead Polydactyly Umbilical hernia Leukemia Generalized tonic-clonic seizures Neutropenia Eczema Recurrent otitis media Gingival overgrowth Foot dorsiflexor weakness Lower limb hyperreflexia Aplasia/Hypoplasia of the capital femoral epiphysis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Micropenis, related diseases and genetic alterations Dysarthria and Retinal detachment, related diseases and genetic alterations Neuroblastoma and Rheumatoid arthritis, related diseases and genetic alterations Delayed speech and language development and Renal agenesis, related diseases and genetic alterations

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