High palate, and Rhizomelia

Diseases related with High palate and Rhizomelia

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

Top matches:

Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.

LANGER MESOMELIC DYSPLASIA Is also known as mesomelic dwarfism, langer type|mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type|dyschondrosteosis, homozygous

Related symptoms:

  • Micrognathia
  • High palate
  • Severe short stature
  • Micromelia
  • Lumbar hyperlordosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LANGER MESOMELIC DYSPLASIA

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP3 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 Is also known as alkylglycerone-phosphate synthase deficiency|alkyldihydroxyacetonephosphate synthase deficiency|agps deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3

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

Other less relevant matches:

High match COG1-CDG

COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

COG1-CDG Is also known as congenital disorder of glycosylation type iig|cdgii/cog1 cerebrocostomandibular-like syndrome|cdg iig|cdg2g|cdg-iig|congenital disorder of glycosylation type 2g|cdgiig|carbohydrate deficient glycoprotein syndrome type iig|cdg syndrome type iig

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COG1-CDG

Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 (OMIM ) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 Is also known as chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency|gnpat deficiency|dihydroxyacetonephosphate acyltransferase deficiency|peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|dhapat deficiency|gly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.

SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME Is also known as sams syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME

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

Medium match TMEM165-CDG

TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).

TMEM165-CDG Is also known as congenital disorder of glycosylation type 2k|cdg iik|cdg2k|congenital disorder of glycosylation type iik|cdg-iik|cdgiik|cdg syndrome type iik|carbohydrate deficient glycoprotein syndrome type iik

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about TMEM165-CDG

Top 5 symptoms//phenotypes associated to High palate and Rhizomelia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Severe short stature Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Generalized hypotonia Downslanted palpebral fissures Feeding difficulties Global developmental delay Short humerus Long philtrum Wide nasal bridge Cryptorchidism Flexion contracture Disproportionate short-limb short stature Anteverted nares Coxa valga Malar flattening Low-set ears Scoliosis Abnormal facial shape Growth delay

Rare Symptoms - Less than 30% cases

Muscular hypotonia Talipes equinovarus Hypertelorism Short neck Hypoplastic scapulae Midface retrusion Hypospadias Narrow mouth Abnormality of the skeletal system Posteriorly rotated ears Kyphoscoliosis Depressed nasal bridge Failure to thrive in infancy Scaphocephaly Myopia Thrombocytopenia Metaphyseal widening Metaphyseal dysplasia Hypotelorism Cataract Osteopenia Seizures Abnormality of the carpal bones Limb undergrowth Madelung deformity Bowing of the long bones Mesomelic short stature Shortening of the tibia Radial bowing Broad palm Epicanthus Intellectual disability, severe Congenital contracture Epiphyseal stippling Hearing impairment Mesomelia Skeletal dysplasia Conductive hearing impairment Spasticity Hypoplasia of the radius Hypoplasia of the ulna Delayed ossification of pubic rami Abnormal form of the vertebral bodies Craniosynostosis Platyspondyly Short palm Hip dislocation Short foot Short metacarpal Choanal atresia Short phalanx of finger Broad forehead Talipes Plagiocephaly Deeply set eye Reduced number of teeth Prominent forehead Short metatarsal Increased susceptibility to fractures Protruding ear Delayed skeletal maturation Mandibular prognathia Atresia of the external auditory canal Hypoplastic ilia Delayed speech and language development Lumbar hyperlordosis Dislocated radial head Brachydactyly Preauricular pit Proximal placement of thumb Hypoplastic toenails Scapulohumeral synostosis Frontal bossing Respiratory distress Short nose Micromelia Abnormality of the genitourinary system Depressivity Inguinal hernia Skeletal muscle hypertrophy Cloverleaf skull Hypophosphatemia Shock Elevated hepatic transaminase Joint laxity Abnormality of the cerebral white matter Growth hormone deficiency Waddling gait Depressed nasal ridge Postnatal microcephaly Hoarse voice Sacral dimple Osteoporosis Epiphyseal dysplasia Protruding tongue Amelogenesis imperfecta Broad neck Premature skin wrinkling Beaking of vertebral bodies Toenail dysplasia Anterior pituitary hypoplasia Diaphyseal dysplasia Hepatosplenomegaly Elevated serum creatine phosphokinase Shallow orbits Broad phalanx Broad foot Abnormality of the clavicle Spondyloepimetaphyseal dysplasia Nasal obstruction Chordee Renal phosphate wasting Abnormality of the nasopharynx Abnormal bone ossification Broad metatarsal Macrocephaly Broad metacarpals Pseudoarthrosis Unerupted tooth Multiple unerupted teeth Strabismus Muscle weakness Ptosis Hepatomegaly Fever Microphthalmia High forehead Respiratory insufficiency Pierre-Robin sequence Low-set, posteriorly rotated ears Postnatal growth retardation Microtia Smooth philtrum Progressive microcephaly Rudimentary fibula Vertebral segmentation defect Enlarged cisterna magna Thin upper lip vermilion Butterfly vertebrae Abnormal isoelectric focusing of serum transferrin Anemia Mesomelic/rhizomelic limb shortening Aplasia/Hypoplasia of the fibula Diarrhea Constipation Respiratory tract infection Intellectual disability, moderate Broad ulna High myopia Long fibula Gonadal dysgenesis Fibular hypoplasia Upper limb undergrowth Short tibia Short 4th metacarpal Abnormality of the humerus Limited elbow movement Multiple exostoses Limited wrist movement Short femur Abnormal metatarsal morphology Dorsal subluxation of ulna Increased carrying angle Short toe Tall stature High, narrow palate Arthralgia Hypertension Neutropenia Severe muscular hypotonia Abnormality of epiphysis morphology Broad femoral neck Autism Retrognathia Astigmatism Accelerated skeletal maturation Scrotal hypoplasia 2-3 toe syndactyly Short femoral neck Obstructive sleep apnea Recurrent infections Micropenis Tibial bowing Congenital cataract Large fontanelles Abnormality of pelvic girdle bone morphology Irregular vertebral endplates Limb joint contracture Calcific stippling Stippled calcification proximal humeral epiphyses Gait ataxia Ventricular septal defect Genu varum Prolonged partial thromboplastin time Laryngomalacia Metaphyseal irregularity Mild short stature Neurodevelopmental delay Steatorrhea Exocrine pancreatic insufficiency Severe failure to thrive Mild global developmental delay Prolonged prothrombin time Intrauterine growth retardation Normocytic anemia Subglottic stenosis Laryngeal cleft Hyperechogenic pancreas Abnormality of the ulna Cleft palate Ulnar deviation of finger Motor delay Unexplained fevers


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Abnormality of skin pigmentation, related diseases and genetic alterations Arthritis and Short distal phalanx of finger, related diseases and genetic alterations Abnormality of the skeletal system and Hepatic steatosis, related diseases and genetic alterations