High palate, and Short metacarpal

Diseases related with High palate and Short metacarpal

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 41; MRD41

Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature, mesomelia, and Madelung wrist deformity. Although the disorder occurs in both sexes, it is usually more severe in females, perhaps due to sex difference in estrogen levels. However, pubertal development and fertility are generally normal in both sexes with the disorder (summary by Ross et al., 2005). The Madelung wrist deformity includes deformity of the distal radius and ulna and proximal carpal bones (Langer, 1965).See also Langer mesomelic dysplasia (LMD ), a more severe phenotype that results from homozygous defect in the SHOX or SHOXY genes.

LERI-WEILL DYSCHONDROSTEOSIS; LWD Is also known as dyschondrosteosis|dco

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • High palate
  • Severe short stature


SOURCES: OMIM MENDELIAN

More info about LERI-WEILL DYSCHONDROSTEOSIS; LWD

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

Other less relevant matches:

Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.

EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE Is also known as eds, spondylocheirodysplastic type|spondylocheirodysplasia, ehlers-danlos syndrome-like|scd-eds

Related symptoms:

  • Short stature
  • Growth delay
  • Failure to thrive
  • Flexion contracture
  • High palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE

SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

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

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

OSTEOGLOSPHONIC DYSPLASIA Is also known as osteoglophonic dwarfism

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OSTEOGLOSPHONIC DYSPLASIA

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME Is also known as smed, short limb-hand type|smed, type ii|smed-sl|smed, short limb-abnormal calcification type|smed-sl/ac|spondylometaepiphyseal dysplasia, short limb-abnormal calcification type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME

Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.

TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3 Is also known as sugio-kajii syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 1 AND 3

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

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Short phalanx of finger Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Long philtrum Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Frontal bossing Low-set ears Malar flattening Short palm Limb undergrowth Clinodactyly of the 5th finger Short metatarsal Global developmental delay Intellectual disability Thin upper lip vermilion Cleft palate Protruding ear Downslanted palpebral fissures Midface retrusion Short nose Short foot Osteopenia Platyspondyly Anteverted nares Depressed nasal bridge Generalized hypotonia Disproportionate short-limb short stature Delayed skeletal maturation Hypertelorism Microcephaly

Rare Symptoms - Less than 30% cases

Short finger Triangular face Seizures Respiratory distress Hearing impairment Arrhythmia Depressivity Clinodactyly Bifid uvula Pectus excavatum Short neck Bulbous nose Small hand Rhizomelia Abnormal facial shape Severe short stature Camptodactyly of finger Joint laxity Pierre-Robin sequence Hip subluxation Proptosis Broad nasal tip Cone-shaped epiphysis Thin vermilion border Failure to thrive Growth delay Retrognathia Abnormality of the skeletal system Skeletal dysplasia Mesomelia Fibular hypoplasia Cryptorchidism Short tibia Hypoplasia of the radius High, narrow palate Dental crowding Palpitations Delayed speech and language development Broad phalanx Broad metacarpals Spondyloepimetaphyseal dysplasia Long fibula Broad forehead Wide nasal bridge Short toe Conductive hearing impairment Muscular hypotonia Hypoplasia of the ulna Hypoplasia of the odontoid process Abnormality of the neck Failure to thrive in infancy Bell-shaped thorax Increased susceptibility to fractures Reduced number of teeth Spinal cord compression Bowing of the long bones Plagiocephaly Abnormal form of the vertebral bodies Epiphyseal stippling Syringomyelia Hypoplastic scapulae Short ribs Restrictive ventilatory defect Broad foot Cloverleaf skull Nasal obstruction Chordee Renal phosphate wasting Abnormality of the nasopharynx Abnormal bone ossification Broad metatarsal Pseudoarthrosis Unerupted tooth Multiple unerupted teeth Abnormality of the clavicle Anterior rib cupping Shallow orbits Thoracic hypoplasia Broad palm Hypophosphatemia Narrow chest Micromelia Recurrent pneumonia Elbow flexion contracture Knee flexion contracture Hypoplastic toenails Short long bone Metatarsus adductus Bowing of the legs Flared metaphysis Flared iliac wings Convex nasal ridge Atlantoaxial instability Abnormal palate morphology 2-3 toe syndactyly Myotonia Growth abnormality Ventricular arrhythmia Oligodontia Reduced tendon reflexes Ventricular tachycardia Prolonged QT interval Scapular winging Bilateral single transverse palmar creases Cardiac arrest Hypoplasia of dental enamel Specific learning disability Febrile seizures Syncope Right bundle branch block Ventricular extrasystoles Hypoplasia of the maxilla Short digit Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Periodic hypokalemic paresis Short mandibular rami Clinodactyly of the 5th toe Left bundle branch block First degree atrioventricular block Delayed eruption of permanent teeth Periodic paralysis Abnormal T-wave Abnormal atrioventricular conduction Torsade de pointes T-wave inversion Sudden cardiac death Wide nose Calcification of falx cerebri Macrotia Underdeveloped nasal alae Short distal phalanx of finger Smooth philtrum Pectus carinatum Sparse hair Hyperlordosis Abnormality of the nervous system Abnormality of the dentition Sparse eyelashes Progressive calcification of costochondral cartilage Triangular shaped distal phalanges of the hand Abnormal calcification of the carpal bones Tracheal calcification Small foramen magnum Posterior rib cupping C1-C2 subluxation Sparse and thin eyebrow Increased number of teeth Limb muscle weakness Cone-shaped epiphyses of the middle phalanges of the hand Toe syndactyly Dolichocephaly Dilated cardiomyopathy Elevated serum creatine phosphokinase Syndactyly Cognitive impairment Shortening of all phalanges of fingers Accelerated bone age after puberty Exostoses Coxa magna Pear-shaped nose Long upper lip Leukonychia Avascular necrosis of the capital femoral epiphysis Sparse lateral eyebrow Fragile nails Choanal atresia Abnormal heart morphology Craniosynostosis Bilateral talipes equinovarus Feeding difficulties Talipes equinovarus Narrow mouth Hip dislocation Prominent nose Webbed neck Short thumb Hoarse voice Microretrognathia Abnormality of the outer ear Abnormality of the hand Abnormality of the voice Proximal placement of thumb Abnormality of the larynx Dorsal subluxation of ulna 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 Flexion contracture Pes planus Increased carrying angle Abnormal metatarsal morphology Bruising susceptibility Arthralgia Dysarthria Babinski sign Facial asymmetry Hypsarrhythmia Paraparesis Short chin Spastic paraparesis Nasal speech Infantile spasms Epileptic spasms Enuresis Oval face Enuresis nocturna Tall stature Shortening of the tibia Coxa valga Skeletal muscle hypertrophy Tibial bowing Gonadal dysgenesis Upper limb undergrowth Radial bowing Short 4th metacarpal Abnormality of the humerus Limited elbow movement Madelung deformity Abnormality of the carpal bones Multiple exostoses Mesomelic short stature Limited wrist movement Postnatal growth retardation Tapered finger Mandibular prognathia Infantile muscular hypotonia Infra-orbital crease Frontal hirsutism Ventricular septal defect Posteriorly rotated ears Low-set, posteriorly rotated ears Apnea Synophrys Pulmonic stenosis Tachycardia Everted lower lip vermilion Narrow forehead Spina bifida occulta Sandal gap Sleep apnea Underdeveloped supraorbital ridges Transposition of the great arteries Proportionate short stature Obstructive sleep apnea Supraventricular tachycardia 11 pairs of ribs Wolff-Parkinson-White syndrome Spondylolisthesis Short 5th metacarpal Perimembranous ventricular septal defect Anterior open bite Prominent sternum Paroxysmal supraventricular tachycardia Hypospadias Inguinal hernia Pseudohypoparathyroidism Delayed ability to walk Delayed eruption of teeth Flat capital femoral epiphysis Hypodontia Dental malocclusion Waddling gait Blue sclerae Thin skin Abnormality of the metaphysis Joint contracture of the hand Hyperextensible skin Metaphyseal widening Short femoral neck Irregular vertebral endplates Prominent superficial veins Broad femoral neck Flattened epiphysis Laryngomalacia Thenar muscle atrophy Moderately short stature Cigarette-paper scars Absent palmar crease Strabismus Ptosis Epicanthus Intrauterine growth retardation Obesity Deeply set eye Severe global developmental delay Astigmatism Delayed myelination Short palpebral fissure Aplasia/Hypoplasia of the maxilla


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