Cleft palate, and Genu valgum

Diseases related with Cleft palate and Genu valgum

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

Top matches:

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of the genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA; HH15

Autosomal dominant rhegmatogenous retinal detachment is a rare, hereditary, non-syndromic form of vitreoretinopathy characterized by retinal tears due to abnormal vitreous, and commonly present refractive errors. No other signs or symptoms of Stickler syndrome is present.

AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT Is also known as stickler syndrome, type i, predominantly ocular|stickler syndrome, atypical

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Cataract
  • Visual impairment
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT RHEGMATOGENOUS RETINAL DETACHMENT

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

Other less relevant matches:

Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome (see this term), found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms

Related symptoms:

  • Short stature
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE STICKLER SYNDROME

JACKSON-WEISS SYNDROME; JWS Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about JACKSON-WEISS SYNDROME; JWS

Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE Is also known as spondylometaphyseal dysplasia|semd, strudwick type|smed, type i|spondylometaepiphyseal dysplasia congenita, strudwick type|semdc|smd|smed, strudwick type|strudwick syndrome|dappled metaphysis syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE

The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation.See {168550} for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (OMIM ) and mandibuloacral dysplasia (OMIM ) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis.Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder.

CLEIDOCRANIAL DYSPLASIA; CCD Is also known as clcd|cleidocranial dysostosis

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA; CCD

Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS Is also known as semd-md|semdjl2|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with joint laxicity, hall type|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with multiple

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

Top 5 symptoms//phenotypes associated to Cleft palate and Genu valgum

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Midface retrusion Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases
Skeletal dysplasia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cleft palate and Genu valgum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of epiphysis morphology Hypertelorism Intellectual disability Scoliosis Osteoarthritis Retinal detachment Frontal bossing Kyphosis Micrognathia Myopia Platyspondyly Coxa vara Flat face Brachydactyly Depressed nasal bridge Mandibular prognathia Talipes equinovarus Pes planus Micromelia Genu varum Delayed pubic bone ossification Narrow chest Sensorineural hearing impairment Abnormal facial shape Respiratory distress Vitreoretinopathy Growth delay Cataract

Rare Symptoms - Less than 30% cases

Hyperlordosis Short neck Short clavicles Increased number of teeth Hip dislocation Wormian bones Large fontanelles Gait disturbance Sleep apnea Hernia Severe short stature Delayed eruption of teeth Pectus carinatum Muscle weakness High, narrow palate Limb undergrowth Abnormality of the metaphysis Increased bone mineral density Short long bone Abnormality of the dentition Metaphyseal irregularity Spondyloepiphyseal dysplasia Short femoral neck Short thorax Disproportionate short stature Hypoplasia of the odontoid process Delayed epiphyseal ossification Spondyloepimetaphyseal dysplasia Muscular hypotonia Hypoplastic scapulae Generalized hypotonia Abnormality of the skeletal system Short nose Proptosis Joint dislocation Broad forehead Osteoporosis Joint hyperflexibility Macrocephaly Epiphyseal dysplasia Abnormal sacrum morphology Irregular vertebral endplates Bowing of the legs Rhizomelia Short face Dystrophic toenail Hypertension Decreased skull ossification Long distal phalanx of finger Abnormal form of the vertebral bodies Pain Down-sloping shoulders Hypoplasia of the zygomatic bone Congestive heart failure Hearing abnormality Glossoptosis Sprengel anomaly Growth abnormality Cervical segmentation defect Back pain Open bite Neck muscle hypoplasia Chronic otitis media Dystrophic fingernails Abnormality of the thumb Apnea Rib segmentation abnormalities Respiratory tract infection Autoimmunity Arthritis Shoulder muscle hypoplasia Hypoplastic inferior ilia Paresthesia Retinal degeneration Pulmonary hypoplasia Limitation of joint mobility Abnormal lung morphology Cervical C2/C3 vertebral fusion Waddling gait Glaucoma High myopia Nystagmus Long proximal phalanx of finger Dimple chin Lumbar hyperlordosis Polydactyly Slender distal phalanx of finger Caudal interpedicular narrowing Vestibular dysfunction Laryngotracheomalacia Stridor Flared metaphysis Abnormal joint morphology Slender metacarpals Posterior scalloping of vertebral bodies Dislocated radial head Thoracic scoliosis Tracheomalacia Abnormality of the patella Large joint dislocations Soft skin Thoracolumbar scoliosis Narrow vertebral interpedicular distance Generalized joint laxity Nail dysplasia Upper airway obstruction Abnormal bone ossification Laryngeal stenosis Generalized osteoporosis Small epiphyses Irregular epiphyses Hypoplasia of the capital femoral epiphysis Carpal bone hypoplasia Broad distal phalanx of finger Inspiratory stridor Enlarged thorax Thoracolumbar kyphosis Flat capital femoral epiphysis Congenital hip dislocation Broad nasal tip Restrictive ventilatory defect Limited hip movement Progressive sensorineural hearing impairment Barrel-shaped chest Ovoid vertebral bodies Spinal dysraphism Myelopathy Slender proximal phalanx of finger Abnormal calcification of the carpal bones Streaky metaphyseal sclerosis Limited elbow movement Flattened epiphysis Delayed patellar ossification Narrow femoral neck Cervical myelopathy Retinoschisis Wide nose Sciatica Neonatal short-trunk short stature Limitation of knee mobility Delayed calcaneal ossification Global developmental delay Low-set ears Anteverted nares Atrial septal defect Intellectual disability, mild Elevated serum creatine phosphokinase Kyphoscoliosis Joint laxity Talipes Abnormality of pelvic girdle bone morphology Spondylolisthesis Abnormality of the metacarpal bones Abnormal palate morphology Strabismus Ptosis Hydrocephalus Syndactyly Headache Abnormality of the pinna Craniosynostosis Hypoplasia of the maxilla Convex nasal ridge Epidermal acanthosis Acanthosis nigricans Short metatarsal Astigmatism 2-3 toe syndactyly Broad hallux Underdeveloped supraorbital ridges Shallow orbits Split foot Turricephaly Preaxial foot polydactyly Broad hallux phalanx Symphalangism affecting the phalanges of the hand Abnormality of fibula morphology Anterior plagiocephaly Craniofacial dysostosis Amblyopia Coronal craniosynostosis Hallux varus Epiphora Cryptorchidism Hypogonadism Micropenis Decreased testicular size Primary amenorrhea Anosmia Small pituitary gland Visual impairment Epicanthus Blindness Retrognathia Nyctalopia Premature osteoarthritis Patellar dislocation Abnormal vitreous humor morphology Rhegmatogenous retinal detachment Posterior vitreous detachment Erosive vitreoretinopathy Membranous vitreous appearance Wide nasal bridge Narrow mouth High forehead Short foot Short metacarpal Short toe Carpal synostosis Broad metatarsal Calcaneonavicular fusion Spina bifida occulta Persistent open anterior fontanelle Parietal foramina Delayed eruption of primary teeth Absent frontal sinuses Parietal bossing Hypoplastic frontal sinuses Moderately short stature Spondylolysis Large foramen magnum Short middle phalanx of the 2nd finger Absent paranasal sinuses Wide pubic symphysis Long second metacarpal Cervical ribs Abnormal facility in opposing the shoulders Clinodactyly of the 5th finger Recurrent respiratory infections Brachycephaly Carious teeth Tapered finger Recurrent fractures Sloping forehead Abnormality of the ribs Sinusitis Hemivertebrae Abnormality of dental enamel Delayed eruption of permanent teeth Aplastic clavicle Inguinal hernia Dental malocclusion Osteopenia Hemangioma Abnormality of the urinary system Abnormality of the sternum Protuberant abdomen Anterior rib cupping Hypoplastic pubic bone Narrow greater sacrosciatic notches C1-C2 subluxation Club-shaped proximal femur Metaphyseal dappling Intellectual disability, moderate Otitis media Short middle phalanx of the 5th finger Recurrent otitis media Hypoplasia of dental enamel Short ribs Increased susceptibility to fractures Cone-shaped epiphysis Neonatal respiratory distress Thickened calvaria Syringomyelia Cone-shaped epiphyses of the phalanges of the hand Abnormality of the clavicle Hypoplastic iliac wing Osteolytic defects of the phalanges of the hand Delayed phalangeal epiphyseal ossification


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