Cleft palate, and Gait disturbance

Diseases related with Cleft palate and Gait disturbance

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


Top matches:

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gmppb-related

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14

Low match MENTAL RETARDATION, X-LINKED 102; MRX102


An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 102; MRX102

Low match CZECH DYSPLASIA, METATARSAL TYPE


Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.

CZECH DYSPLASIA, METATARSAL TYPE Is also known as pseudorheumatoid dysplasia, progressive, with hypoplastic toes|spondyloepiphyseal dysplasia with precocious osteoarthritis|czech dysplasia, metatarsal type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CZECH DYSPLASIA, METATARSAL TYPE

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Other less relevant matches:

Low match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4


Hyperphosphatasia with mental retardation syndrome-4 is an autosomal recessive neurologic disorder characterized by severely delayed psychomotor development, mental retardation, lack of speech acquisition, seizures, and dysmorphic facial features. Laboratory studies show increased serum alkaline phosphatase (summary by Howard et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4 Is also known as glycosylphosphatidylinositol biosynthesis defect 10|gpibd10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4

Low 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

Low match RENAL AGENESIS, BILATERAL


Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE


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

Low match KALLMANN SYNDROME


Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia|olfacto-genital pathological sequence

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about KALLMANN SYNDROME

Low 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

Top 5 symptoms//phenotypes associated to Cleft palate and Gait disturbance

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Gait disturbance. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Short stature Cryptorchidism Talipes equinovarus Spondyloepiphyseal dysplasia Osteoarthritis Skeletal dysplasia Brachydactyly Myopia Abnormal facial shape Generalized hypotonia Hypertelorism Global developmental delay Pes planus

Rare Symptoms - Less than 30% cases


Absent speech Arthralgia Micropenis Platyspondyly Abnormality of female internal genitalia Short metacarpal Coxa vara Growth abnormality Inguinal hernia Feeding difficulties Retinal detachment Abnormality of cardiovascular system morphology Retrognathia Flat capital femoral epiphysis High palate Abnormality of epiphysis morphology Primary amenorrhea Short femoral neck Arthritis Flexion contracture Hip dysplasia Oligohydramnios Hernia Visual impairment Hypoplasia of the corpus callosum Metaphyseal irregularity Inability to walk Autism Pain Renal agenesis Ataxia Muscular hypotonia Recurrent fractures Muscle weakness Dysarthria Gait ataxia Scaphocephaly Astigmatism Hypotelorism Rhizomelia Abnormality of the metaphysis Nystagmus Obstructive sleep apnea Coxa valga Broad femoral neck Accelerated skeletal maturation 2-3 toe syndactyly Scrotal hypoplasia Metaphyseal widening Ptosis Failure to thrive Hypospadias Hemangioma Genu varum Abnormality of the urinary system Short thorax Abnormality of the sternum Disproportionate short stature Protuberant abdomen Hypoplasia of the odontoid process Delayed epiphyseal ossification Spondyloepimetaphyseal dysplasia Anterior rib cupping Hypoplastic pubic bone Narrow greater sacrosciatic notches Ventricular septal defect Obesity Increased bone mineral density Delayed pubic bone ossification C1-C2 subluxation Club-shaped proximal femur Metaphyseal dappling Short long bone Micrognathia Cataract Motor delay Intrauterine growth retardation Tremor Abnormality of color vision Delayed skeletal maturation Corneal dystrophy Hip dislocation Pulmonic stenosis Joint hyperflexibility Arachnodactyly Joint hypermobility Bruising susceptibility Microcornea Mitral valve prolapse High myopia Blue sclerae Congenital hip dislocation Cutis laxa Hyperextensible skin Myalgia Increased susceptibility to fractures Hallux valgus Keratoconus Megalocornea Soft skin Sclerocornea Corneal erosion Corneal scarring Shoulder dislocation Flat cornea Keratoglobus Decreased corneal thickness Camptodactyly Neonatal hypotonia Pes cavus Hyposmia Delayed puberty Paraplegia Ichthyosis Decreased testicular size Hypoplasia of penis Gynecomastia Hypogonadotrophic hypogonadism Reduced bone mineral density Anosmia Reduced number of teeth Abnormality of the voice Decreased fertility Anterior hypopituitarism Conductive hearing impairment Breast hypoplasia Bimanual synkinesia Dyspareunia Erectile abnormalities Hypothalamic gonadotropin-releasing hormone deficiency Edema Abnormality of the dentition Pectus excavatum Visual loss Osteoporosis Glaucoma Umbilical hernia Limb undergrowth Vaginal atresia Flat face Thin upper lip vermilion Thoracic kyphosis Narrow iliac wings Intervertebral space narrowing Periarticular calcification Narrow femoral neck Growth delay Wide nasal bridge Short nose Long philtrum Upslanted palpebral fissure Broad nasal tip Arthropathy Generalized myoclonic seizures Full cheeks Generalized-onset seizure Involuntary movements Postnatal microcephaly Mutism Tented upper lip vermilion Elevated alkaline phosphatase Bruxism Large earlobe Shortening of all distal phalanges of the fingers Irregular vertebral endplates Abnormal joint morphology Clinodactyly Aggressive behavior Intellectual disability, severe Hypertonia Elevated serum creatine phosphokinase Cerebellar hypoplasia Muscular dystrophy Hypoplasia of the pons Hypoglycosylation of alpha-dystroglycan Spasticity Ventriculomegaly Behavioral abnormality Hyperactivity Cleft lip Short metatarsal Autistic behavior Cleft upper lip Dyskinesia Broad-based gait Decreased body weight Precocious puberty Cortical dysplasia Abnormality of the skeletal system Limitation of joint mobility Waddling gait Short toe Tented philtrum Clinodactyly of the 5th finger Micromelia Urogenital fistula Abnormality of the genitourinary system Polycystic kidney dysplasia Unilateral renal agenesis Tracheoesophageal fistula Non-midline cleft lip Breech presentation Bicornuate uterus Bilateral renal agenesis Abnormal sacrum morphology Bilateral renal hypoplasia Nonketotic hypoglycemia Potter facies Multicystic kidney dysplasia Urethral obstruction Sirenomelia Bilateral renal dysplasia Fetal polyuria Respiratory distress Kyphosis Severe short stature Osteopenia Hyperlordosis Pectus carinatum Genu valgum Abnormal intestine morphology Renal dysplasia Rigidity Limited elbow flexion Small hand Epiphyseal dysplasia Short middle phalanx of finger Mild short stature Metatarsus adductus Bilateral talipes equinovarus Short finger Multiple epiphyseal dysplasia Abnormality of the knee Hip subluxation Knee pain Hypoplasia of the femoral head Depressed nasal ridge Abnormality of the patella Double-layered patella Low-set ears Hypertension Epicanthus Proteinuria Abnormality of the kidney Talipes Falls Pulmonary hypoplasia Renal hypoplasia Abnormality of hair pigmentation



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