Cleft palate, and Motor delay

Diseases related with Cleft palate and Motor delay

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


Top matches:

Low match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Low match NEMALINE MYOPATHY 9; NEM9


Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Cleft palate
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 9; NEM9

Low match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3


Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include milder intellectual disability (Krawitz et al., 2013). 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 3; HPMRS3 Is also known as mental retardation, autosomal recessive 17|mrt21|glycosylphosphatidylinositol biosynthesis defect 8|gpibd8|mrt17|mental retardation, autosomal recessive 21

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3; HPMRS3

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Other less relevant matches:

Low match WEISSENBACHER- ZWEYMULLER SYNDROME


Weissenbacher-Zweymuller syndrome (WZS) is characterized by short stature at birth, neonatal micrognathia, cleft palate, rhizomelic chondrodysplasia with 'dumbbell' shaped arm and leg bones, hypertelorism and vertebral coronal clefts.

WEISSENBACHER- ZWEYMULLER SYNDROME Is also known as heterozygous otospondylomegaepiphyseal dysplasia|heterozygous osmed|pierre robin sequence-fetal chondrodysplasia syndrome|pierre robin syndrome-fetal chondrodysplasia syndrome

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia
  • Cleft palate
  • Delayed speech and language development


SOURCES: ORPHANET MENDELIAN

More info about WEISSENBACHER- ZWEYMULLER SYNDROME

Low match BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD


BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Low match MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C

Low 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

Low 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

Low match EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME


EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

Low match MEIER-GORLIN SYNDROME 5; MGORS5


Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 5; MGORS5

Top 5 symptoms//phenotypes associated to Cleft palate and Motor delay

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Motor delay. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Myopathy Flexion contracture Facial palsy Microcephaly Muscular dystrophy Generalized muscle weakness Arthrogryposis multiplex congenita Seizures Respiratory insufficiency Neonatal hypotonia Intellectual disability Micrognathia Atrial septal defect

Rare Symptoms - Less than 30% cases


Difficulty running Failure to thrive Depressed nasal bridge Conductive hearing impairment Low-set ears Ptosis Fatigue Dysphagia Gastroesophageal reflux Decreased fetal movement Centrally nucleated skeletal muscle fibers Hypertelorism Hip dislocation Areflexia Talipes equinovarus Intrauterine growth retardation Myopathic facies Minicore myopathy Increased endomysial connective tissue Muscular hypotonia Cardiomyopathy Short stature Ventricular septal defect Cryptorchidism Hearing impairment Intellectual disability, mild Autistic behavior Respiratory distress Strabismus Growth delay Spinal rigidity Stooped posture Generalized limb muscle atrophy Skeletal myopathy Pectus excavatum Type 1 muscle fiber predominance Nemaline bodies Encephalopathy Malignant hyperthermia Congenital hip dislocation Ophthalmoparesis Limb-girdle muscular dystrophy Respiratory failure Muscle cramps Talipes Hypertrophic cardiomyopathy Proximal muscle weakness Pes planus Kyphoscoliosis Polyhydramnios Abnormality of the dentition Patent ductus arteriosus Skeletal muscle atrophy Fever Cognitive impairment Hyporeflexia Broad nasal tip Hypermetropia Microtia Birth length less than 3rd percentile Toe clinodactyly Small earlobe Hypoplasia of the capital femoral epiphysis Irregular epiphyses Patellar aplasia Mild global developmental delay Prominent metopic ridge Slender long bone Elbow dislocation Microdontia Triangular face Hypoplasia of the maxilla Thick vermilion border Micropenis Respiratory tract infection Restrictive ventilatory defect Paralysis Camptodactyly of finger Recurrent pneumonia Severe muscular hypotonia Poor head control Nasal speech Long fingers Delayed skeletal maturation Bulbar palsy Increased connective tissue Diaphragmatic paralysis Respiratory arrest Long philtrum Clinodactyly Mitochondrial depletion Left ventricular noncompaction Thin vermilion border Muscular hypotonia of the trunk Autism Brachycephaly Epicanthus Anemia Mild neurosensory hearing impairment Submucous cleft soft palate Abnormality of the mandible Coronal cleft vertebrae Short femur Glossoptosis Metaphyseal widening Delayed gross motor development Rhizomelia Attention deficit hyperactivity disorder Short nose Thick eyebrow Proptosis Hyperactivity Myopia Cerebral atrophy Delayed speech and language development Absent speech Poor speech Mild microcephaly Hyperphosphatemia Elevated alkaline phosphatase Tented upper lip vermilion Absence seizures Aganglionic megacolon Dandy-Walker malformation Abnormality of the pinna Highly arched eyebrow Abnormal levels of creatine kinase in blood Fetal akinesia sequence Brain atrophy Cleft soft palate Ankle contracture Coarctation of aorta Difficulty climbing stairs Distal muscle weakness Calf muscle hypertrophy Congenital muscular dystrophy Radioulnar synostosis Knee flexion contracture Webbed neck Narrow chest Dilated cardiomyopathy Akinesia Abnormal cardiac septum morphology Single transverse palmar crease Intellectual disability, severe Bifid uvula Long eyelashes Brittle hair Flat occiput Increased number of teeth Bilateral conductive hearing impairment Wide nasal bridge Breech presentation Sensorineural hearing impairment Limb muscle weakness Progressive distal muscle weakness Congestive heart failure Arrhythmia Elevated serum creatine phosphokinase Irregular femoral epiphysis



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