Cleft palate, and Hip dysplasia

Diseases related with Cleft palate and Hip dysplasia

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


Top matches:

Medium match CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF


Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, {222600}). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Downslanted palpebral fissures


SOURCES: OMIM MENDELIAN

More info about CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF

Medium match ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS


ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS Is also known as scott-taor syndrome|sps|ischiopatellar dysplasia|patella aplasia, coxa vara, and tarsal synostosis|small patella syndrome|coxopodopatellar syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS

Medium 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:

Medium match BRITTLE CORNEA SYNDROME


Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Medium match MEIER-GORLIN SYNDROME 6; MGORS6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 6; MGORS6

Medium match ARTERIAL TORTUOSITY SYNDROME


Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Medium match AUTOSOMAL DOMINANT ROBINOW SYNDROME


Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Medium match DIASTROPHIC DWARFISM


Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

Medium match COFFIN-SIRIS SYNDROME 6; CSS6


Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Medium match X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY


Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).

X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY Is also known as x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED FEMALE RESTRICTED FACIAL DYSMORPHISM-SHORT STATURE-CHOANAL ATRESIA-INTELLECTUAL DISABILITY

Top 5 symptoms//phenotypes associated to Cleft palate and Hip dysplasia

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Hip dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Intellectual disability Micrognathia Downslanted palpebral fissures Abnormal facial shape Prominent forehead Short nose Posteriorly rotated ears Midface retrusion Clinodactyly of the 5th finger Strabismus Talipes equinovarus Hip dislocation Umbilical hernia Hernia Recurrent respiratory infections Small hand Severe short stature Brachydactyly Gastroesophageal reflux Anteverted nares Delayed speech and language development Frontal bossing Intrauterine growth retardation Myopia Feeding difficulties Cryptorchidism Short middle phalanx of finger Joint hyperflexibility Inguinal hernia Hyperextensible skin Pectus excavatum Blue sclerae Muscular hypotonia Generalized hypotonia Conductive hearing impairment Pes planus Long philtrum Pain High palate Coxa vara Low-set, posteriorly rotated ears Abnormality of epiphysis morphology Hypoplasia of the corpus callosum Low-set ears Macrocephaly

Rare Symptoms - Less than 30% cases


Dandy-Walker malformation Camptodactyly of finger Thin upper lip vermilion Keratoconus Retrognathia Short philtrum Abnormal form of the vertebral bodies Micromelia Short foot Tapered finger Atrial septal defect High, narrow palate Arachnodactyly Sacral dimple High forehead Keratoglobus Kyphoscoliosis Single transverse palmar crease Hypoplastic labia majora Respiratory distress Specific learning disability Short palpebral fissure Coxa valga Avascular necrosis of the capital femoral epiphysis Seizures Femoral hernia Motor delay Median cleft lip and palate Growth delay Epicanthus Failure to thrive Thick vermilion border Wide nasal bridge Elbow dislocation Arthralgia Flexion contracture Sandal gap Patellar aplasia Bilateral talipes equinovarus Hypertension Short finger Patellar hypoplasia Abnormality of the dentition Gait disturbance Clinodactyly Talipes Skeletal dysplasia Flat capital femoral epiphysis Polydactyly Osteoarthritis Arthrogryposis multiplex congenita Abnormality of the foot Full cheeks Joint stiffness Cerebral calcification Narrow forehead Limb undergrowth Wormian bones Prominent nose Abnormality of the outer ear Postaxial polydactyly Proximal placement of thumb Overfolded helix Short long bone Disproportionate short-limb short stature Abnormality of the metacarpal bones Joint dislocation Abnormality of the ribs Hoarse voice Increased bone mineral density Short phalanx of finger Bowing of the long bones Bifid uvula Interphalangeal joint contracture of finger Abnormality of the metaphysis Obesity Hypotelorism Hypoplastic labia minora Open bite Long palpebral fissure Increased number of teeth Capillary hemangioma Anodontia Bifid tongue Fingernail dysplasia Abnormality of thyroid physiology Epispadias Flared nostrils Clitoral hypoplasia Lower limb asymmetry Abnormality of the gingiva Curly eyelashes Pneumonia Ridged fingernail Abnormal cortical gyration Abnormality of the penis Abnormality of the genitourinary system Euryblepharon Naevus flammeus of the eyelid Onychogryposis of fingernail Renal dysplasia Choanal atresia Respiratory insufficiency Hypertrichosis Kyphosis Abnormality of cardiovascular system morphology Abnormal heart morphology Ulnar deviation of finger Spinal cord compression Hip contracture Wide mouth Cataract Hypertrophic auricular cartilage Testicular torsion Diaphragmatic eventration Periventricular leukomalacia Tics Constipation Hyperactivity Coarse facial features Large forehead Anxiety High anterior hairline Aggressive behavior Arachnoid cyst Patent ductus arteriosus Sparse hair Attention deficit hyperactivity disorder Short distal phalanx of finger Infantile spasms Abnormality of the hand Delayed eruption of teeth Broad nasal tip Deep philtrum Small nail Thick lower lip vermilion Plagiocephaly Narrow palpebral fissure Sparse scalp hair Finger clinodactyly Ventriculomegaly Cerebellar hypoplasia Overweight Ulnar deviation of the wrist Abnormality of the clavicle Stereotypy Thoracic dysplasia Bulbous nose Large earlobe Symphalangism affecting the phalanges of the hand Irregular epiphyses Lethal skeletal dysplasia Ulnar deviation of the hand Visceral angiomatosis Flattened epiphysis Neonatal short-limb short stature Spinal deformities Cervical kyphosis Pes cavus Astigmatism Anal atresia Hitchhiker thumb Hypoplastic cervical vertebrae Glabellar hemangioma Laryngotracheal stenosis Costal cartilage calcification Smooth philtrum Cystic lesions of the pinnae Facial asymmetry Hypermetropia Joint laxity Hydronephrosis Brachycephaly Absent speech Pyloric stenosis Oligodontia Mitral valve prolapse Sensorineural hearing impairment Edema Visual loss Osteoporosis Glaucoma Neonatal hypotonia Myalgia Camptodactyly Pulmonic stenosis Joint hypermobility Bruising susceptibility Retinal detachment Recurrent fractures Microcornea High myopia Abnormality of the patella Congenital hip dislocation Cutis laxa Corneal dystrophy Increased susceptibility to fractures Hallux valgus Megalocornea Soft skin Sclerocornea Corneal erosion Corneal scarring Shoulder dislocation Flat cornea Decreased corneal thickness Abnormality of hair pigmentation Double-layered patella Hypoplasia of the femoral head Hyperlordosis Talocalcaneal synostosis Cardiomegaly Pterygium Preaxial polydactyly Foot polydactyly Median cleft palate Abnormality of the skeletal system Carious teeth Pulmonary arterial hypertension Short chin Tarsal synostosis Patellar dislocation Short femur Aplasia/Hypoplasia of the patella Iliac horns Hypoplasia of the lesser trochanter Limited elbow flexion Wide capital femoral epiphyses Rigidity Arthritis Short metacarpal Growth abnormality Epiphyseal dysplasia Metaphyseal irregularity Spondyloepiphyseal dysplasia Mild short stature Metatarsus adductus Multiple epiphyseal dysplasia Abnormality of the knee Hip subluxation Knee pain Delayed skeletal maturation Respiratory tract infection Hemivertebrae Abnormality of the zygomatic bone Rocker bottom foot Telangiectasia of the skin Prematurely aged appearance Aortic root aneurysm Pulmonary artery stenosis Hiatus hernia Cardiorespiratory arrest Aortic dissection Esophagitis Myocarditis Abnormal myocardium morphology Arterial stenosis Long palm Abnormal carotid artery morphology Ptosis Redundant skin Short neck Hypospadias Alopecia Upslanted palpebral fissure Proptosis Pectus carinatum Finger syndactyly Short palm Wide nose Downturned corners of mouth Hypodontia Hypoplasia of penis Long eyelashes Gingival overgrowth Aortic aneurysm Cardiac arrest Microtia Bronchomalacia Small for gestational age Delayed puberty Delayed myelination Underdeveloped nasal alae Growth hormone deficiency Lumbar hyperlordosis Depressed nasal ridge Microretrognathia Laryngomalacia Emphysema Cortical gyral simplification Tracheomalacia Stenosis of the external auditory canal Entropion Subglottic stenosis Thin skin Macrotia Myocardial infarction Long face Dilated cardiomyopathy Blepharophimosis Craniosynostosis Hypertrophic cardiomyopathy Dyspnea Tracheobronchomalacia Respiratory failure Dilatation Malar flattening Congestive heart failure Fatigue Nasogastric tube feeding Unilateral breast hypoplasia



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