Generalized hypotonia, and Short metacarpal

Diseases related with Generalized hypotonia and Short metacarpal

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Short metacarpal that can help you solving undiagnosed cases.

Top matches:

MMDS4 is an autosomal recessive neurodegenerative disorder that usually results in death in early childhood. Affected individuals have normal development for the first months of life, but thereafter show progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus. Patients regress to a vegetative state with lack of eye contact and speech, and poor feeding. Most patients have optic atrophy, and some may develop seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased CSF glycine and decreased activity of mitochondrial complex II; there may be additional biochemical evidence of mitochondrial dysfunction (summary by Alaimo et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Spasticity
  • Feeding difficulties


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4; MMDS4

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

Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).

PSEUDOPSEUDOHYPOPARATHYROIDISM Is also known as aho-pphp syndrome|albright hereditary osteodystrophy without multiple hormone resistance|albright hereditary osteodystrophy-pphp syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOPSEUDOHYPOPARATHYROIDISM

Other less relevant matches:

SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME Is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME

Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME Is also known as soft syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME

Medium match OPSISMODYSPLASIA

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME Is also known as smed, short limb-hand type|smed, type ii|smed-sl|smed, short limb-abnormal calcification type|smed-sl/ac|spondylometaepiphyseal dysplasia, short limb-abnormal calcification type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT LIMB-ABNORMAL CALCIFICATION SYNDROME

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Short metacarpal

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Long philtrum Uncommon - Between 30% and 50% cases
Short nose Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Short metacarpal. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short neck Hypertelorism Abnormality of the skeletal system Global developmental delay Anteverted nares Skeletal dysplasia Muscular hypotonia Clinodactyly Seizures Malar flattening Small hand Frontal bossing High palate Microcephaly Short metatarsal Short foot Scoliosis Intellectual disability Abnormal facial shape Midface retrusion Low-set ears Pectus excavatum Short palm Platyspondyly Osteopenia Severe short stature Delayed skeletal maturation

Rare Symptoms - Less than 30% cases

Dental crowding Obesity Wide mouth Short long bone Disproportionate short-limb short stature Macrocephaly Recurrent pneumonia Posteriorly rotated ears Pseudohypoparathyroidism Bell-shaped thorax Growth delay Strabismus Micrognathia Ptosis Epicanthus Wide nasal bridge Spondyloepimetaphyseal dysplasia Relative macrocephaly Delayed epiphyseal ossification Short femoral neck Retrognathia Deeply set eye Severe global developmental delay Microtia Broad nasal tip Micromelia Narrow chest Limb undergrowth Delayed speech and language development Cleft palate Posterior rib cupping Metatarsus adductus Clinodactyly of the 5th finger Short finger Short 4th metacarpal Respiratory failure Metaphyseal irregularity Anterior rib cupping Hip subluxation Pain Nystagmus Developmental regression Respiratory insufficiency Small nail Gingival overgrowth Type II diabetes mellitus Calcification of falx cerebri Nail dysplasia Pointed chin Flat acetabular roof Long fibula Azoospermia Widely spaced teeth Atlantoaxial instability Cone-shaped epiphysis High pitched voice Agenesis of permanent teeth Broad metacarpals Disproportionate short stature Low hanging columella Oligospermia Hypoplastic pelvis Waddling gait Triangular face Prominent nose High forehead Short 5th metacarpal Perimembranous ventricular septal defect Anterior open bite Prominent sternum Paroxysmal supraventricular tachycardia Abnormality of the dentition Prominent forehead Triangular shaped distal phalanges of the hand Diabetes mellitus Mandibular prognathia Postnatal growth retardation C1-C2 subluxation Abnormal calcification of the carpal bones Sparse hair Small for gestational age Dolichocephaly Carious teeth Long face Short distal phalanx of finger Tracheal calcification Downturned corners of mouth Small foramen magnum Breast hypoplasia Hepatomegaly Clitoral hypoplasia Rhizomelia Proptosis Broad thumb Bipolar affective disorder Wolff-Parkinson-White syndrome Schizophrenia Large fontanelles Severe platyspondyly Squared iliac bones Abnormality of epiphysis morphology Abnormally ossified vertebrae Short ribs Wide anterior fontanel Hypoplastic pubic bone Prominent supraorbital ridges Vertebral hypoplasia Flat occiput Hypophosphatemia Protuberant abdomen Hypoplastic vertebral bodies Hypoplastic ischia Renal phosphate wasting Short phalanx of finger Elbow flexion contracture Broad phalanx Hypoplasia of the odontoid process Flared iliac wings Frontal balding Hypoplastic sacrum Metaphyseal cupping Abnormality of the neck Edema Spinal cord compression Epiphyseal stippling Syringomyelia Splenomegaly Recurrent respiratory infections Knee flexion contracture Polyhydramnios Respiratory tract infection Joint stiffness Restrictive ventilatory defect Tapered finger Thoracic hypoplasia Flared metaphysis Blue sclerae Abnormality of the metaphysis Bowing of the legs Spondylolisthesis Distal femoral bowing 11 pairs of ribs Cognitive impairment Mild short stature Bilateral talipes equinovarus Multiple epiphyseal dysplasia Abnormality of the knee Flat capital femoral epiphysis Knee pain Limited elbow flexion Hypoplasia of the femoral head Abnormality of the patella Double-layered patella Cataract Osteoporosis Spondyloepiphyseal dysplasia Brachycephaly Aggressive behavior Delayed eruption of teeth Full cheeks Round face Cerebral calcification Hypoplasia of dental enamel Impulsivity Ectopic calcification Cryptorchidism Intrauterine growth retardation Short middle phalanx of finger Epiphyseal dysplasia Thin vermilion border Leukodystrophy Spasticity Feeding difficulties Visual impairment Hyperreflexia Optic atrophy Syndactyly Absent speech Joint laxity Muscular hypotonia of the trunk Abnormality of the cerebral white matter Toe syndactyly Abnormality of mitochondrial metabolism Growth abnormality Abnormality of the periventricular white matter Recurrent lower respiratory tract infections Vegetative state Flexion contracture Gait disturbance Talipes equinovarus Arthralgia Rigidity Arthritis Hip dysplasia Osteoarthritis Astigmatism Delayed myelination Supraventricular tachycardia Tachycardia Downslanted palpebral fissures Ventricular septal defect Arrhythmia Abnormal heart morphology Thin upper lip vermilion Conductive hearing impairment Low-set, posteriorly rotated ears Apnea Broad forehead Synophrys Pulmonic stenosis Everted lower lip vermilion Thoracic platyspondyly Narrow forehead Palpitations Short toe Spina bifida occulta Sandal gap Infantile muscular hypotonia Sleep apnea Transposition of the great arteries Proportionate short stature Obstructive sleep apnea Pierre-Robin sequence Hearing impairment Skull asymmetry Short palpebral fissure Thick vermilion border Laryngomalacia Delayed ability to walk Underdeveloped supraorbital ridges Infra-orbital crease Frontal hirsutism Failure to thrive Motor delay Autism Hyperlordosis Autistic behavior Craniosynostosis Increased body weight Proximal femoral epiphysiolysis Coxa vara Tented upper lip vermilion Rocker bottom foot Overlapping toe Femoral bowing Slender long bone Thoracolumbar scoliosis Beaking of vertebral bodies Small epiphyses Narrow pelvis bone Short fourth metatarsal Progressive calcification of costochondral cartilage


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