Cleft palate, and Joint stiffness

Diseases related with Cleft palate and Joint stiffness

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

Top matches:

RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Cleft palate
  • High palate


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPADILINO SYNDROME

Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.

AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME Is also known as facio-genito-popliteal syndrome|popliteal web syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Thin upper lip vermilion


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME

Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

Related symptoms:

  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Downslanted palpebral fissures
  • Frontal bossing


SOURCES: ORPHANET MENDELIAN

More info about ANTLEY-BIXLER SYNDROME

Other less relevant matches:

Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.

KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant|kfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1

Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE Is also known as dyssegmental dwarfism, silverman-handmaker type|anisospondylic camptomicromelic dwarfism, silverman-handmaker type

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Wide nasal bridge
  • Talipes equinovarus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE

Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.

FAMILIAL VISCERAL MYOPATHY Is also known as familial hollow visceral myopathy|megaduodenum and/or megacystis|hereditary hollow visceral myopathy

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cleft palate
  • Anteverted nares
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL VISCERAL MYOPATHY

Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude SyndromeAlso see VWS2 (OMIM ), caused by mutation in the GRHL3 gene (OMIM ) on chromosome 1p36.

VAN DER WOUDE SYNDROME 1; VWS1 Is also known as cleft lip and/or palate with mucous cysts of lower lip|pit|lps|lip-pit syndrome|vdws

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about VAN DER WOUDE SYNDROME 1; VWS1

HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

Top 5 symptoms//phenotypes associated to Cleft palate and Joint stiffness

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Abnormality of the ribs Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Abnormality of cardiovascular system morphology Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Low-set, posteriorly rotated ears Narrow chest Cryptorchidism Short stature Flexion contracture Umbilical hernia Micromelia Severe short stature Camptodactyly of finger Cataract Abnormality of the metaphysis Choanal atresia Non-midline cleft lip Short neck

Rare Symptoms - Less than 30% cases

Proptosis Inguinal hernia Respiratory insufficiency Malar flattening Kyphosis Short nose Anteverted nares Narrow mouth Anisospondyly Respiratory distress Arachnodactyly Otitis media Enlarged joints Skeletal dysplasia Strabismus Platyspondyly Round face Macrocephaly Conductive hearing impairment Osteoarthritis Cleft upper lip Microcephaly Webbed neck Downslanted palpebral fissures Midface retrusion Hypertelorism Ambiguous genitalia Clinodactyly of the 5th finger High myopia Myopia Joint dislocation Fibrous syngnathia Depressed nasal bridge Thin upper lip vermilion Finger syndactyly Toe syndactyly Specific learning disability Wide nasal bridge Split hand Ankyloblepharon Abnormality of the nail Generalized hirsutism Lip pit Scrotal hypoplasia Bifid scrotum Nonketotic hyperglycinemia Hypoplastic labia majora Popliteal pterygium Multiple joint contractures Short finger Abnormal joint morphology Hypoplasia of the odontoid process Aplasia/Hypoplasia of the lungs Abnormality of the fingernails Fetal akinesia sequence Abnormal cortical bone morphology Flared iliac wings Epiphyseal dysplasia Bilateral single transverse palmar creases Spondylometaphyseal dysplasia Hydrocephalus Hypoplasia of penis Rough bone trabeculation Akinesia Hypoplastic toenails Short ribs Pulverulent cataract Prominent forehead Respiratory failure High forehead Kyphoscoliosis Brachydactyly Arthrogryposis multiplex congenita Confusion Peripheral axonal neuropathy Abnormal form of the vertebral bodies Nuclear cataract Ectopic anus Interphalangeal joint contracture of finger Abnormality of the elbow Increased serum ferritin Iron deficiency anemia Microcytic anemia Polycystic ovaries Limb undergrowth Ptosis Thoracic kyphoscoliosis Bell-shaped thorax Rhizomelia Coxa vara Ectopia lentis Neonatal respiratory distress Spondyloepiphyseal dysplasia Flared metaphysis Short thorax Chorioretinal atrophy Arthropathy Hip contracture Tracheomalacia Glossoptosis Vitreoretinopathy Recurrent otitis media Delayed epiphyseal ossification Tracheal stenosis Hypoplastic pelvis Disproportionate short-trunk short stature Hypoplastic ilia Coronal cleft vertebrae Enlarged thorax Lens luxation Rhegmatogenous retinal detachment Dumbbell-shaped long bone Lumbar kyphoscoliosis Splayed epiphyses Flattened, squared-off epiphyses of tubular bones Abnormality of epiphysis morphology Retinal detachment Long thorax Long coccyx Abnormality of the intervertebral disk Caudal appendage Pseudoarthrosis Severe platyspondyly Cervical instability Abnormal enchondral ossification Flared femoral metaphysis Hypoplastic cervical vertebrae Short diaphyses Flared humeral metaphysis Snail-like ilia Relatively short spine Abnormal metaphyseal vascular invasion Dumbbell-shaped metaphyses Hip dislocation Halberd-shaped pelvis Hyperplasia of the femoral trochanters Absent primary metaphyseal spongiosa Pain Anal atresia Motor delay Gait disturbance Abnormality of the skeletal system Depressivity Glaucoma Retrognathia Hyperlordosis Retinopathy Convex nasal ridge Aplasia/Hypoplasia of the abdominal wall musculature Congenital cataract Low posterior hairline Hypoplasia of the zygomatic bone Abnormal renal morphology Narrow pelvis bone Elbow ankylosis Sensorineural hearing impairment Ventricular septal defect Abnormality of the pinna Microtia Facial asymmetry Intestinal malrotation Abnormality of the genitourinary system Underdeveloped supraorbital ridges Relative macrocephaly Unilateral renal agenesis Rocker bottom foot Mixed hearing impairment Vertebral fusion Sprengel anomaly External ear malformation Fused cervical vertebrae Stiff neck Bimanual synkinesia Posterior fossa cyst Turricephaly Femoral bowing Abnormal vertebral segmentation and fusion Absent radius Abnormal facial shape High palate Diarrhea Blepharophimosis Long face High, narrow palate Short chin Narrow palpebral fissure Hypoplasia of the radius Absent thumb Aplasia/Hypoplasia of the radius Patellar aplasia Delayed cranial suture closure Patellar hypoplasia Aplasia/Hypoplasia of the patella Mottled pigmentation Slender nose Stiff interphalangeal joints Frontal bossing Long philtrum Brachycephaly Craniosynostosis Talipes Recurrent fractures Congenital muscular torticollis Cervical C2/C3 vertebral fusion Severe global developmental delay Bifid uvula Hyperparathyroidism Abdominal situs inversus Megacystis Feeding difficulties Syndactyly Difficulty walking Cleft lip Neurological speech impairment Oral cleft Falls Hypodontia Abnormality of the genital system Hydroureter Cerebral palsy Pterygium Ankyloglossia Lower lip pit Intercrural pterygium Intellectual disability Anemia Visual impairment Intrauterine growth retardation Macrotia Photophobia Anonychia Aganglionic megacolon Moderate hearing impairment Blue sclerae Abnormality of limb bone morphology Decreased cervical spine mobility Mild conductive hearing impairment Limited neck range of motion Cervicomedullary schisis Talipes equinovarus Atrial septal defect Posteriorly rotated ears Flat face Pulmonary hypoplasia Overgrowth Depressed nasal ridge Vesicoureteral reflux Bowing of the long bones Disproportionate short-limb short stature Short long bone Abnormality of pelvic girdle bone morphology Thoracic hypoplasia Calvarial skull defect Abnormality of the abdominal wall Neonatal short-limb short stature Prominent nasal bridge Broad forehead Abdominal distention Abnormal cartilage collagen


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Finger syndactyly, related diseases and genetic alterations Lymphoma and Colon cancer, related diseases and genetic alterations Spasticity and Psychosis, related diseases and genetic alterations Cognitive impairment and Small nail, related diseases and genetic alterations