Cleft palate, and Difficulty walking

Diseases related with Cleft palate and Difficulty walking

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


Top matches:

Medium match VAN DER WOUDE SYNDROME 1; VWS1


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

Medium match X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE


X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

Medium match MEHMO SYNDROME


MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

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Other less relevant matches:

Medium match CRI-DU-CHAT SYNDROME


Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.

CRI-DU-CHAT SYNDROME Is also known as cat cry syndrome|chromosome 5p deletion syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CRI-DU-CHAT SYNDROME

Medium match COHEN-GIBSON SYNDROME; COGIS


Cohen-Gibson syndrome is an overgrowth disorder characterized by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. Other features may include hypotonia, difficulty walking due to skeletal anomalies, and umbilical hernia (summary by Cooney et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COHEN-GIBSON SYNDROME; COGIS

Medium match NEMALINE MYOPATHY 7; NEM7


Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by Ockeloen et al., 2012).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia
  • High palate
  • Motor delay


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 7; NEM7

Medium match CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT


Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Ptosis
  • Flexion contracture
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT

Medium match ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT


Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

Medium match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E


Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E Is also known as cmt2e|charcot-marie-tooth neuropathy, type 2e

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E

Medium match INTERMEDIATE NEMALINE MYOPATHY


Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.

Related symptoms:

  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about INTERMEDIATE NEMALINE MYOPATHY

Top 5 symptoms//phenotypes associated to Cleft palate and Difficulty walking

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Areflexia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Difficulty walking. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Cryptorchidism Talipes equinovarus Respiratory distress Feeding difficulties Facial palsy Intellectual disability Global developmental delay Bifid uvula Short stature Hypertelorism Abnormal facial shape Muscular hypotonia Ptosis Low-set ears Delayed speech and language development Myopia Long philtrum Seizures Round face Wide nasal bridge Micrognathia Gait disturbance Pes planus Muscle weakness Nemaline bodies Camptodactyly Myopathy Cleft lip Arachnodactyly Distal muscle weakness

Rare Symptoms - Less than 30% cases


Tall stature Poor speech Narrow face Severe global developmental delay Long fingers Slender finger Microcephaly Growth delay Strabismus Hypospadias Spasticity Hypoplasia of the corpus callosum Small for gestational age Intellectual disability, severe Aggressive behavior Macrotia Autism Hypertonia Gait ataxia Hyperactivity Broad-based gait Downturned corners of mouth Long face Frequent falls Hyporeflexia Skeletal muscle atrophy Myopathic facies Impaired vibratory sensation Arthrogryposis multiplex congenita Peripheral neuropathy Type 1 muscle fiber predominance Poor head control Gowers sign Foot dorsiflexor weakness Waddling gait Inability to walk Proximal muscle weakness Respiratory insufficiency Joint laxity Abnormality of the skeletal system Patent ductus arteriosus Downslanted palpebral fissures Epicanthus Cataract Hearing impairment Wide intermamillary distance Thick lower lip vermilion Hernia Falls Facial asymmetry Oral cleft Split hand Cognitive impairment Dysarthria Absent speech Finger syndactyly Thin upper lip vermilion Kyphoscoliosis Intellectual disability, moderate Abnormality of the pinna Short philtrum Prominent nasal bridge Syndactyly Unsteady gait High, narrow palate Recurrent fractures Bulbous nose Postural instability Choanal atresia Depressivity Hyperopic astigmatism Hamstring contractures Narrow foot Spinal instability Scrotal hypoplasia Cerebral palsy Generalized hirsutism Abnormality of the nail Abnormality of the genital system Atrial septal defect Thin nail Joint hypermobility Abnormality of the ribs Ambiguous genitalia Progressive muscle weakness Specific learning disability Respiratory insufficiency due to muscle weakness Delayed gross motor development Otitis media Neck muscle weakness Hypodontia Myofibrillar myopathy Bifid scrotum Minicore myopathy Elevated serum creatine phosphokinase Long ear Broad face Broad forehead Deeply set eye Astigmatism Thick eyebrow Nevus Overgrowth Small nail Mitral regurgitation Broad thumb Exotropia Coxa valga Accelerated skeletal maturation Pterygium Hemangioma Metaphyseal widening Melanocytic nevus Long foot Large hands Jaundice Tracheomalacia Umbilical hernia Retrognathia Enlarged kidney Poor coordination Muscle cramps Osteopenia Broad neck Patellar dislocation Spinal cord compression Capillary hemangioma Hypoplastic iliac wing Webbed neck Limb-girdle muscle weakness Lumbar hyperlordosis Ulnar claw Impaired tactile sensation Pes cavus Hyperkeratosis Paralysis Distal amyotrophy Distal sensory impairment Abnormality of the hand Congenital contracture Hammertoe Steppage gait Decreased motor nerve conduction velocity Distal lower limb amyotrophy Increased connective tissue Hypotrophy of the small hand muscles Impaired proprioception Dysphagia Cardiomyopathy Respiratory failure Polyhydramnios Ophthalmoplegia Generalized muscle weakness Premature birth Decreased fetal movement Severe muscular hypotonia EMG: myopathic abnormalities Abnormality of the thorax Hypokinesia Facial diplegia Sensory ataxia Distal arthrogryposis Knee flexion contracture Abnormal peripheral nervous system synaptic transmission Scapular winging Ragged-red muscle fibers Easy fatigability Difficulty climbing stairs Fatigable weakness Difficulty running Depressed nasal bridge Cleft upper lip EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Muscle fiber tubular inclusions Increased jitter at single fibre EMG Favorable response of weakness to acetylcholine esterase inhibitors Generalized weakness of limb muscles Ataxia Delayed ability to walk Toe syndactyly Neurological speech impairment Abnormality of the foot Dysmetria Peripheral axonal neuropathy Sensory neuropathy Hip dysplasia Joint contracture of the hand Sandal gap Sensory axonal neuropathy Joint stiffness Long nose Narrow nasal bridge Macrocephaly High-pitched cry Recurrent infections in infancy and early childhood Tapered finger Acidosis Osteoporosis EEG abnormality Hypoglycemia Myoclonus Muscular hypotonia of the trunk Attention deficit hyperactivity disorder Pectus excavatum Delayed puberty Anteverted nares Lactic acidosis Thick vermilion border Intercrural pterygium Broad nasal tip Narrow mouth Full cheeks Lower lip pit Growth hormone deficiency Sloping forehead Hypoplasia of penis Tetraparesis Open mouth Lower limb spasticity Progressive microcephaly Spastic tetraparesis Pancreatitis Widely spaced teeth Drooling Agitation Brachycephaly Micropenis Depressed nasal tip Small earlobe High myopia Intellectual disability, profound Dental crowding Hyperpigmentation of the skin Spontaneous abortion Nasal speech Sparse eyebrow Decreased muscle mass Disproportionate tall stature Smooth philtrum Epileptic spasms Slender build Hyperextensibility of the finger joints Long hallux Mandibular prognathia Narrow palm Focal motor seizures Long palm Asymmetry of the ears Abnormality of movement Nystagmus Synophrys Hyperreflexia Ventriculomegaly Pectus carinatum Obesity Babinski sign Hypogonadism Diabetes mellitus External genital hypoplasia Large earlobe Overfriendliness Delusions Preauricular skin tag Aspiration Horseshoe kidney Microretrognathia Poor suck Short metatarsal Prominent supraorbital ridges Tracheoesophageal fistula Metatarsus adductus High pitched voice Premature graying of hair Esophageal atresia Self-mutilation Stenosis of the external auditory canal Stereotypy Diastasis recti Short attention span Echolalia Facial grimacing Auditory hallucinations Functional respiratory abnormality Abnormality of bone mineral density Hyperacusis Generalized myoclonic seizures Conspicuously happy disposition Cat cry Anterior open-bite malocclusion Oppositional defiant disorder High axial triradius Hallucinations Short metacarpal Male hypogonadism Ankyloglossia Abdominal obesity Birth length less than 3rd percentile Tall chin Fibrous syngnathia Failure to thrive Lip pit Nonketotic hyperglycinemia Popliteal pterygium Intrauterine growth retardation Optic atrophy Ankyloblepharon Short neck Abnormality of cardiovascular system morphology Clinodactyly Dental malocclusion Hypoplastic labia majora Abnormal heart morphology Inguinal hernia Gastroesophageal reflux Non-midline cleft lip Neonatal hypotonia Anxiety Low-set, posteriorly rotated ears Abnormality of the kidney Feeding difficulties in infancy Wide mouth Joint hyperflexibility Small hand Single transverse palmar crease Multiple prenatal fractures



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Abnormality of the eye, related diseases and genetic alterations Tremor and Leukodystrophy, related diseases and genetic alterations Edema and Paresthesia, related diseases and genetic alterations Visual impairment and Agenesis of corpus callosum, related diseases and genetic alterations

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