Cleft palate, and Hip dislocation

Diseases related with Cleft palate and Hip dislocation

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


Top matches:

Medium match EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2


The features of Ehlers-Danlos syndrome spondylodysplastic type 2 include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999).For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see {130070}.

EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2 Is also known as ehlers-danlos syndrome, progeroid type, 2, formerly|edsp2, formerly

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cleft palate
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2; EDSSPD2

Medium match EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY


EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

Medium match CENTRAL CORE DISEASE OF MUSCLE; CCD


Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).

CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CENTRAL CORE DISEASE OF MUSCLE; CCD

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Other less relevant matches:

Medium match HYPOTHALAMIC HAMARTOMAS


Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Medium match RICHIERI COSTA-PEREIRA SYNDROME


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

Medium match DISTAL ARTHROGRYPOSIS TYPE 5D


Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.

DISTAL ARTHROGRYPOSIS TYPE 5D Is also known as distal arthrogryposis type 5 without ophthalmoparesis|da5d|distal arthrogryposis type 5 without ophthalmoplegia

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL ARTHROGRYPOSIS TYPE 5D

Medium match GORDON SYNDROME


Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.

GORDON SYNDROME Is also known as distal arthrogryposis type iia|arthrogryposis multiplex congenita, distal, type iia|camptodactyly, cleft palate, and clubfoot|gordon syndrome|distal arthrogryposis type 3|camptodactyly-cleft palate-clubfoot syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GORDON SYNDROME

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 THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME


Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME Is also known as tar syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Thrombocytopenia


SOURCES: ORPHANET MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME

Medium match MICROPHTHALMIA WITH LIMB ANOMALIES; MLA


MICROPHTHALMIA WITH LIMB ANOMALIES; MLA Is also known as waardenburg anophthalmia syndrome|anophthalmia-syndactyly|ophthalmoacromelic syndrome|oas

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Cleft palate
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

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

Symptoms // Phenotype % cases
Talipes equinovarus Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Arthrogryposis multiplex congenita Congenital hip dislocation High palate Flexion contracture Camptodactyly Pes planus Webbed neck Kyphoscoliosis Ptosis Clinodactyly of the 5th finger Pectus excavatum Generalized hypotonia Neonatal hypotonia

Rare Symptoms - Less than 30% cases


Protruding ear Horseshoe kidney Low-set ears Postaxial hand polydactyly Short nose Short phalanx of finger Talipes Skeletal muscle atrophy Feeding difficulties Bifid uvula Downslanted palpebral fissures Bilateral talipes equinovarus Pterygium Hearing impairment Intellectual disability Finger syndactyly Single transverse palmar crease Distal arthrogryposis Submucous cleft hard palate Decreased muscle mass Adducted thumb Fibular hypoplasia Lumbar hyperlordosis Abnormal vertebral morphology Ophthalmoplegia Hyperlordosis Short neck Centrally nucleated skeletal muscle fibers Sensorineural hearing impairment Minicore myopathy Depressed nasal bridge Syndactyly Knee flexion contracture Prominent forehead Blue sclerae Cutis laxa Hyperextensible skin Muscle weakness Motor delay Cardiomyopathy Facial palsy Abnormal cardiac septum morphology Muscular dystrophy Generalized muscle weakness Myopathy Myopathic facies Blepharophimosis Edema Sandal gap Thoracolumbar scoliosis Down-sloping shoulders Abnormality of the rib cage Decreased hip abduction Ulnar deviation of the hand or of fingers of the hand Camptodactyly of toe Growth delay Myopia Gait disturbance Hernia Abnormality of the dentition Anophthalmia Visual loss Inguinal hernia Osteoporosis Glaucoma Hemivertebrae Umbilical hernia Conductive hearing impairment Myalgia Pulmonic stenosis Joint hyperflexibility Deep philtrum Tibial bowing Joint hypermobility Hand oligodactyly Polydactyly Camptodactyly of 2nd-5th fingers Deeply set eye Retinopathy Camptodactyly of finger Metacarpal synostosis Abnormality of the foot Facial asymmetry Abnormality of skin pigmentation Foot oligodactyly Flared nostrils Posteriorly rotated ears Oligodactyly Triangular face Limitation of joint mobility Abnormal renal morphology Microphthalmia Dandy-Walker malformation Interphalangeal joint contracture of finger Frontal bossing Short femur Overlapping toe Cutaneous finger syndactyly Postaxial foot polydactyly Arachnodactyly Bruising susceptibility Cervical ribs Abnormality of the genitourinary system Thrombocytopenia High forehead Intellectual disability, mild Postnatal growth retardation Low-set, posteriorly rotated ears Abnormality of the kidney Broad forehead Tetralogy of Fallot Broad thumb Cleft upper lip Coxa valga Genu varum Abnormality of hair pigmentation Abnormality of coagulation Aplasia/hypoplasia of the humerus Absent radius Patellar dislocation Aplasia/Hypoplasia of the ulna Fused cervical vertebrae Aplasia of the uterus Toe syndactyly Fibular aplasia Phocomelia Aplasia/Hypoplasia of the patella Nevus flammeus of the forehead Decreased corneal thickness Retinal detachment Abnormality of epiphysis morphology Axial malrotation of the kidney Recurrent fractures Microcornea Hip dysplasia Abnormality of the hair Retrognathia Mitral valve prolapse Split hand High myopia Short palpebral fissure Abnormality of the cardiovascular system Corneal dystrophy Keratoglobus Increased susceptibility to fractures Hallux valgus Keratoconus Megalocornea Soft skin Sclerocornea Corneal erosion Tibial torsion Corneal scarring Shoulder dislocation Flat cornea Cleft lip Anteverted nares Epicanthus Decreased fetal movement Seizures Cognitive impairment Fever Intrauterine growth retardation Fatigue Respiratory insufficiency Areflexia Polyhydramnios Proximal muscle weakness Hypertrophic cardiomyopathy Muscle cramps Limb-girdle muscular dystrophy Increased endomysial connective tissue Ophthalmoparesis Spinal rigidity Malignant hyperthermia Nemaline bodies Type 1 muscle fiber predominance Skeletal myopathy Generalized limb muscle atrophy Stooped posture Neoplasm Macrocephaly Hydrocephalus Abnormality of cardiovascular system morphology Mitochondrial depletion Abnormal levels of creatine kinase in blood Micropenis Hypertelorism Proptosis Osteopenia Sparse hair Platyspondyly Flat face Decreased body weight Epiphyseal dysplasia Flared metaphysis Carpal synostosis Long upper lip Advanced ossification of carpal bones Craniofacial disproportion Ventricular septal defect Left ventricular noncompaction Atrial septal defect Congestive heart failure Arrhythmia Elevated serum creatine phosphokinase Dilated cardiomyopathy Radioulnar synostosis Congenital muscular dystrophy Calf muscle hypertrophy Difficulty climbing stairs Difficulty running Ankle contracture Cleft soft palate Abnormal heart morphology Skeletal dysplasia Cryptorchidism Highly arched eyebrow 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 Bulbous nose Round face Acetabular dysplasia Exotropia Elbow flexion contracture Congenital contracture Rocker bottom foot Hypoplastic labia majora Furrowed tongue Labial hypoplasia Pulmonary insufficiency Calcaneovalgus deformity Tongue atrophy Unilateral ptosis Limited knee flexion Hip subluxation Abnormality of the larynx Micromelia Prominent nose Pulmonary hypoplasia Renal dysplasia Short ribs Occipital encephalocele Hamartoma Median cleft lip Microglossia Anterior hypopituitarism Glioma Hypothalamic hamartoma Respiratory distress Narrow mouth Short metacarpal Short tibia Limb undergrowth Short thumb Hoarse voice Microretrognathia Abnormality of the outer ear Hypoplasia of the radius Abnormality of the hand Abnormality of the voice Proximal placement of thumb Hypoplasia of the ulna Mesomelia Pierre-Robin sequence Fused fourth and fifth metacarpals



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Pes planus, related diseases and genetic alterations Dysarthria and Sparse scalp hair, related diseases and genetic alterations Delayed speech and language development and High forehead, related diseases and genetic alterations Myopathy and Retinopathy, related diseases and genetic alterations

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