Skeletal muscle atrophy, and Short philtrum

Diseases related with Skeletal muscle atrophy and Short philtrum

In the following list you will find some of the most common rare diseases related to Skeletal muscle atrophy and Short philtrum that can help you solving undiagnosed cases.


Top matches:

Medium match FRIED SYNDROME


Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Muscular hypotonia
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRIED SYNDROME

Medium match INTELLECTUAL DISABILITY, BIRK-BAREL TYPE


Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Medium match X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE


X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

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Other less relevant matches:

Medium match RENPENNING SYNDROME 1; RENS1


Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

Low match MOWAT-WILSON SYNDROME; MOWS


Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

Low match MYHRE SYNDROME


Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE SYNDROME

Low match SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47


Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Low match 2Q24 MICRODELETION SYNDROME


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Low match SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52


Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Short philtrum

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
High palate Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Skeletal muscle atrophy and Short philtrum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Intellectual disability, severe

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Hearing impairment Cleft palate Behavioral abnormality Wide nasal bridge Muscular hypotonia Hypospadias Mandibular prognathia Abnormal heart morphology Microphthalmia Delayed speech and language development Absent speech Motor delay Ventricular septal defect Strabismus Epicanthus Spasticity Neonatal hypotonia Bulbous nose Coarse facial features Flexion contracture Coloboma Short neck Cataract Intrauterine growth retardation Feeding difficulties Downslanted palpebral fissures Macrotia Ventriculomegaly Hypertonia Hypoplasia of the corpus callosum Cryptorchidism Failure to thrive Ptosis Febrile seizures Scoliosis Wide mouth Camptodactyly of finger Prominent nose Autistic behavior Atrial septal defect Hyperreflexia Babinski sign Camptodactyly Thin upper lip vermilion Narrow mouth Spastic paraplegia Hyperactivity Micrognathia Paraplegia Spastic diplegia

Rare Symptoms - Less than 30% cases


Narrow palpebral fissure Posteriorly rotated ears Talipes equinovarus Sparse hair Agenesis of corpus callosum Joint stiffness Decreased testicular size Clinodactyly Deeply set eye Abnormal cardiac septum morphology Telecanthus Cachexia Patent ductus arteriosus Postnatal growth retardation Interphalangeal joint contracture of finger Constipation Anxiety Abnormality of cardiovascular system morphology Malar flattening Iris coloboma Hypoplasia of the maxilla Small face Tetralogy of Fallot Abnormality of the ribs Short palm Hypermetropia Small for gestational age Pectus excavatum Syndactyly Severe short stature Upslanted palpebral fissure Broad columella Poor suck Moderately short stature High hypermetropia Arachnodactyly Submucous cleft hard palate Sensorineural hearing impairment Toe syndactyly Tetraplegia Highly arched eyebrow Clinodactyly of the 5th finger Inguinal hernia Obesity Coarctation of aorta Fine hair Macrocephaly Open mouth Broad eyebrow Oral-pharyngeal dysphagia Narrow forehead High, narrow palate Generalized muscle hypertrophy Thick eyebrow Tracheal stenosis Depressivity Chronic constipation Thickened calvaria Long face Poor speech Intellectual disability, moderate Aggressive behavior Hydrocephalus Gait disturbance Pes cavus Brachydactyly Hypogonadism Spastic tetraplegia Focal-onset seizure High forehead Joint hypermobility Blepharophimosis Facial hypotonia Neurological speech impairment Cupped ear Pes planus Abnormality of the skeletal system Bifid uvula Respiratory insufficiency Misalignment of teeth Respiratory distress Progressive cerebellar ataxia Abnormality of the gastrointestinal tract Bruxism Low hanging columella Pulmonary artery stenosis Abnormal eyebrow morphology Limitation of joint mobility Cerebellar atrophy External ear malformation Hypertension Low-set ears Pulmonary artery sling Amenorrhea Specific learning disability Abnormality of the cardiovascular system Short palpebral fissure Choanal atresia Ataxia Cardiomyopathy Oral cleft Thin vermilion border Midface retrusion Respiratory failure Autism Conductive hearing impairment Cleft lip Respiratory tract infection Recurrent respiratory infections Scarring Microtia Cough Uplifted earlobe Prominent nasal bridge Abnormal eye morphology Aplasia/Hypoplasia of the cerebral white matter Large basal ganglia Atypical absence seizures Abnormal morphology of the hippocampus Happy demeanor Deep plantar creases Subglottic stenosis Platyspondyly Prominent nasal tip Esodeviation Astigmatism Broad hallux phalanx Recurrent infections Large earlobe Abnormal lung morphology Wheezing Abnormality of the metaphysis Inability to walk Everted upper lip vermilion Acetabular dysplasia Excessive salivation Genu recurvatum Abnormality of the periventricular white matter Protruding tongue Waddling gait Dystonia Severe global developmental delay Dysarthria Hypoplasia of eyelid Gingival cleft Enlarged vertebral pedicles Laryngotracheal stenosis Abnormality of the pubic bone Constrictive pericarditis Low-set, posteriorly rotated ears Long fingers Large iliac wings Loss of ability to walk Small cerebral cortex Periventricular leukomalacia Mild microcephaly Delayed ability to walk Curly hair Abnormality of digit Simple febrile seizures Cerebral palsy Central apnea Thick vermilion border Talipes Apnea Muscular hypotonia of the trunk Bullet-shaped distal phalanx of the hallux Abnormality iris morphology Abnormal oral frenulum morphology Hand clenching Pear-shaped nose Esophageal stenosis Thickened skin Stridor Pericardial effusion External genital hypoplasia Blurred vision 2-3 toe syndactyly Overlapping toe Skeletal muscle hypertrophy Radial deviation of finger Cone-shaped epiphysis Vertebral fusion Abnormality of the voice Precocious puberty Short long bone EMG abnormality Aortic valve stenosis Short toe Abnormality of epiphysis morphology Short finger Abnormal joint morphology Pseudopapilledema Peptic ulcer Stiff skin Abnormality of the penis Abnormal lip morphology Unilateral cleft lip Abnormality of the menstrual cycle Epispadias Femoral hernia Constrictive median neuropathy Keratoconus Craniofacial hyperostosis Restrictive cardiomyopathy Broad ribs Hypoplastic iliac wing Oligomenorrhea Irregular vertebral endplates Pericarditis Arthropathy Drowsiness Decreased head circumference Supernumerary nipple Cubitus valgus Abnormality of the musculature Truncal obesity Cortical gyral simplification Cortical dysplasia Open bite Large hands Relative macrocephaly Biparietal narrowing Acanthosis nigricans Sandal gap Gynecomastia Short thumb Broad-based gait Thick lower lip vermilion Cerebellar vermis atrophy Striae distensae Hypoplasia of penis Small earlobe Cerebral atrophy Long philtrum Intellectual disability, mild Blindness Abnormality of toe Mood swings Abnormality of earlobe Restlessness Abdominal obesity Panhypopituitarism Tics Abnormal hair pattern Distal lower limb amyotrophy Down-sloping shoulders Scaphocephaly Intention tremor Memory impairment Diabetes mellitus Feeding difficulties in infancy Spinal muscular atrophy Dysphonia Tented upper lip vermilion Sacral dimple Broad nasal tip Dolichocephaly Hypoglycemia Tented philtrum Retrognathia Dysphagia Muscle weakness Abnormality of the optic nerve Cerebral calcification Abnormal cerebellum morphology Neonatal hypoglycemia Submucous cleft soft palate Macroglossia Abnormality of the pinna Short foot Small hand Polymicrogyria Joint hyperflexibility Delayed puberty Synophrys Joint laxity Depressed nasal bridge EEG abnormality Gait ataxia Micropenis Hyperhidrosis Immunodeficiency Kyphosis Tremor Alopecia Brachycephaly Ectopic kidney Delayed eruption of teeth Dehydration Otitis media Esotropia Vesicoureteral reflux Brain atrophy Abdominal distention Tapered finger Sparse scalp hair Everted lower lip vermilion Falls Cleft upper lip Pulmonic stenosis Abnormality of the cerebral white matter Finger syndactyly Sloping forehead Recurrent otitis media Abnormality of the kidney Abnormality of the genitourinary system Hallux valgus Rocker bottom foot Bifid scrotum Aplasia/Hypoplasia of the cerebellum Sparse eyebrow Pyloric stenosis Drooling Abnormality of the genital system Aplasia/Hypoplasia of the corpus callosum Widely spaced teeth Cutaneous syndactyly Absence seizures Pointed chin Postnatal microcephaly Aganglionic megacolon Pectus carinatum Hydronephrosis Abnormality of the nervous system Nasal speech Ankylosis Sprengel anomaly Prominent metopic ridge Mild short stature Chorioretinal coloboma Failure to thrive in infancy Narrow face Abnormality of the thumb Abnormality of the hair Situs inversus totalis Joint contracture of the hand Renal hypoplasia Triangular face Anal atresia Protruding ear Sparse lateral eyebrow Abnormality of the rib cage Cerebral cortical atrophy Pain Dilatation Short nose Diarrhea Vomiting Frontal bossing Fever Nystagmus Heterotaxy Abnormal hair laboratory examination Narrow foot Round ear Phimosis Macrodontia Anteverted ears Thin eyebrow Aplasia of the inferior half of the cerebellar vermis



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