Brachydactyly, and Muscular hypotonia of the trunk

Diseases related with Brachydactyly and Muscular hypotonia of the trunk

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


Top matches:

Medium match X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE


X-linked Mental retardation Cantagrel type is characterised by marked neonatal hypotonia, progressive quadriparesia, severely delayed developmental milestones (walking at 3 years of age), gastroesophageal reflux, stereotypic movements of the hands, esotropia and infantile autism.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CANTAGREL TYPE

Medium match IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

Medium match MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME


Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.

MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME Is also known as mic-cap syndrome|microcephaly-cutaneous capillary malformation syndrome|mic-cm syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME

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Other less relevant matches:

Medium match MONOSOMY 13Q14


Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

Medium match ADAMS-OLIVER SYNDROME 2; AOS2


Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Medium match FILIPPI SYNDROME


Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

Medium match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Medium match 15Q24 MICRODELETION SYNDROME


15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

Medium match KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS


KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome|bpids

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

Medium match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III


Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type|low-birth-weight dwarfism with skeletal dysplasia|mopd i|mopd types i and iii|osteodysplastic primordial dwarfism, type i|primordial microcephalic dwarfism, crachami type|mopd|cephaloske

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III

Top 5 symptoms//phenotypes associated to Brachydactyly and Muscular hypotonia of the trunk

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Single transverse palmar crease Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
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Other less frequent symptoms

Patients with Brachydactyly and Muscular hypotonia of the trunk. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypoplasia of the corpus callosum

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Intrauterine growth retardation

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases


Prominent nasal bridge Posteriorly rotated ears Bulbous nose Muscular hypotonia Depressed nasal bridge Cryptorchidism Hearing impairment Epicanthus Postnatal growth retardation Hypertonia Clinodactyly Short nose Anteverted nares Ventriculomegaly Delayed speech and language development Clinodactyly of the 5th finger Spasticity Abnormality of the nervous system Strabismus Intellectual disability, severe High palate Wide nasal bridge Cleft palate Smooth philtrum Small for gestational age Polydactyly Wide anterior fontanel Thin vermilion border Aggressive behavior Wide nose Small nail Fine hair Thin upper lip vermilion Optic atrophy Recurrent infections Skeletal dysplasia Macrotia Long face Thick vermilion border Iris coloboma Cerebral atrophy Broad forehead Protruding ear High forehead Feeding difficulties Microphthalmia Ptosis Delayed myelination Micropenis Oligohydramnios Nystagmus Sparse and thin eyebrow Sparse hair Bilateral single transverse palmar creases Toe syndactyly Severe global developmental delay Atrial septal defect Underdeveloped nasal alae Abnormality of the skeletal system Downslanted palpebral fissures Hyperactivity Syndactyly Finger clinodactyly Polymicrogyria Deeply set eye Open mouth Agenesis of corpus callosum

Rare Symptoms - Less than 30% cases


Hirsutism Sacral dimple Polyhydramnios Scoliosis Dilatation Anteverted ears Short chin Generalized hirsutism Delayed skeletal maturation Hypertrichosis Flexion contracture Visual impairment Abnormality of digit Severe short stature Prominent forehead Coarctation of aorta Abnormality of the upper urinary tract Cortical gyral simplification Patent foramen ovale Hydrocephalus Dry skin Brachycephaly Widely spaced teeth Cataract Thick eyebrow Narrow palpebral fissure Dolichocephaly Hip dislocation Finger syndactyly Supernumerary nipple Coloboma Microretrognathia Cerebellar hypoplasia Hydronephrosis Wide intermamillary distance Abnormal heart morphology Alopecia Hernia Abnormality of cardiovascular system morphology Low-set, posteriorly rotated ears Long philtrum High anterior hairline Short neck Frontal bossing Narrow nose Cognitive impairment Proptosis Intellectual disability, moderate Overlapping fingers Status epilepticus Platyspondyly Long palm Coarse facial features Immunodeficiency Sloping forehead Motor delay Central hypothyroidism Short thumb Long nose Coarse hair Absence seizures Narrow face Postnatal microcephaly Tetraparesis Hypsarrhythmia Prominent nose Narrow forehead Generalized-onset seizure Esotropia Abnormality of the outer ear Poor speech Short philtrum Autistic behavior Neonatal hypotonia Gastroesophageal reflux Hypothyroidism Autism Cerebral cortical atrophy Constipation Absent speech Short palm Specific learning disability Limb undergrowth Narrow mouth Hypogonadism Abnormality of the pinna Short distal phalanx of finger Feeding difficulties in infancy Disproportionate short stature Abnormality of the kidney Hyperkeratosis Upslanted palpebral fissure Progressive microcephaly Ketoacidosis Abnormality of nervous system morphology Bell-shaped thorax Ovoid vertebral bodies Furrowed tongue Proteinuria Bilateral conductive hearing impairment Telecanthus Growth hormone excess Conductive hearing impairment Ovarian cyst Progeroid facial appearance Wide nasal base Hyperlordosis Thick nail Thick upper lip vermilion Astigmatism Postaxial polydactyly Carious teeth Long penis Microphallus Blepharophimosis Thick hair Microcornea Abdominal distention Intestinal atresia Intestinal malrotation Dehydration Optic disc pallor Prematurely aged appearance Hyperglycemia Hypoglycemia Preauricular skin tag Dysplastic corpus callosum Nephrocalcinosis Narrow palate Large fleshy ears Myopia Peripheral neuropathy Insulin resistance Acanthosis nigricans Conspicuously happy disposition Dental crowding Thin skin Epidermal acanthosis Gastrointestinal atresia Medial flaring of the eyebrow Respiratory distress Anisocoria Abnormality of the thyroid gland Unilateral cryptorchidism Metatarsus adductus Abnormality of the proximal phalanx of the thumb Neonatal respiratory distress Clitoral hypertrophy Sparse eyebrow Precocious puberty Pes planus Flared nostrils Thick nasal alae Poor suck Deep plantar creases Toe clinodactyly Mandibular prognathia Diabetes mellitus Polycystic ovaries Muscle stiffness Hypocholesterolemia Severe intrauterine growth retardation Abnormal cortical gyration Hypoplastic ilia Short femur Long foot Flat acetabular roof Abnormality of finger Delayed epiphyseal ossification Thickened nuchal skin fold Arachnoid cyst Epileptic spasms Agenesis of cerebellar vermis Submucous cleft hard palate Hip contracture Short humerus Osteomalacia Broad palm Prolonged neonatal jaundice Partial agenesis of the corpus callosum Femoral bowing Prominent occiput Hydroureter 11 pairs of ribs Profound global developmental delay Diabetes insipidus Abnormality of calcium-phosphate metabolism Cleft vertebral arch Absent knee epiphyses Enlarged metaphyses Bowed humerus Bifid femur Abnormality of the tragus Shoulder flexion contracture Abnormality of the pubic bone Abnormality of the distal phalanx of finger Loss of eyelashes Large iliac wings Colpocephaly Aplasia/hypoplasia of the femur Small anterior fontanelle Hypoplasia of the frontal lobes Abnormality of the intervertebral disk Abnormally ossified vertebrae Long clavicles Aplastic clavicle Tethered cord Broad distal phalanx of finger Thin eyebrow Multiple joint contractures Large hands Advanced eruption of teeth Respiratory insufficiency Apnea Rigidity Retrognathia Osteopenia Dyspnea Respiratory failure Glaucoma Osteoporosis Malar flattening Fever Corneal opacity Sensorineural hearing impairment Onychauxis Laryngeal stridor Postprandial hyperglycemia Narrow palm Female pseudohermaphroditism Macrodontia Broad eyebrow Abnormality of the abdominal wall Diastema Microtia Hypotrichosis Rickets Heterotopia Elbow dislocation Preaxial polydactyly Abnormality of the urinary system Abnormality of the metacarpal bones Lissencephaly Sparse eyelashes Knee flexion contracture Slender finger Elbow flexion contracture Bowing of the long bones Pachygyria Micromelia Abnormality of the metaphysis Abnormal form of the vertebral bodies Sparse scalp hair Cerebellar vermis hypoplasia Renal hypoplasia Tetralogy of Fallot Short metacarpal Premature birth Bifid uvula Renal cyst Insomnia Limb dystonia Mild short stature Abnormal hair whorl Trigonocephaly Deep philtrum Abnormal dermatoglyphics Holoprosencephaly Hypotelorism Webbed neck Everted lower lip vermilion Wide mouth Hemiclonic seizures Aplasia/Hypoplasia of the thumb Capillary malformation Right ventricular hypertrophy Short 5th finger Central hypotonia Long palpebral fissure Spastic tetraparesis Short toe Ventricular hypertrophy Absent septum pellucidum Abnormality of the gastrointestinal tract Hypoplasia of the maxilla Lymphedema Periventricular leukomalacia Corpus callosum atrophy Aplasia cutis congenita Short finger Cutis marmorata Dermal atrophy Cerebral palsy Low anterior hairline Blue sclerae Thickened helices Gliosis Short foot Retinal detachment Congenital cataract Depressivity Macrocephaly Leukocoria Retinoblastoma Vesicoureteral reflux Downturned corners of mouth Retinal fold Tented upper lip vermilion Kyphoscoliosis Pectus excavatum Kyphosis Hyperreflexia Shawl scrotum Protruding tongue Poor eye contact Abnormality of the musculature Drooling Anal atresia Stereotypy Nephrotic syndrome Round face Urinary incontinence Generalized myoclonic seizures EEG abnormality Gait ataxia Ataxia Craniosynostosis Broad nasal tip Myoclonus Metaphyseal dysplasia Severe platyspondyly Cervical instability Narrow greater sacrosciatic notches Hypoplasia of the capital femoral epiphysis Delayed ossification of carpal bones Hepatic cysts Severe combined immunodeficiency Dislocated radial head Neurodevelopmental delay Full cheeks Opisthotonus Combined immunodeficiency Erythroderma Epiphyseal dysplasia Eosinophilia Coxa valga Lymphopenia Inflammatory abnormality of the skin Decreased antibody level in blood Aplasia cutis congenita of scalp Retrocerebellar cyst Radial deviation of finger Obesity Hypermetropia Attention deficit hyperactivity disorder Camptodactyly of finger Developmental regression Joint laxity Pes cavus Inguinal hernia Hypospadias Intellectual disability, mild Joint hyperflexibility Olivopontocerebellar hypoplasia Hypoplastic aortic arch Spotty hypopigmentation Long neck Otosclerosis Epiphyseal stippling Long fingers Broad hallux Facial asymmetry Arachnodactyly Overlapping toe Cafe-au-lait spot Cupped ear Proximal placement of thumb Abnormality of the thorax Abnormality of the voice Nasal speech Sandal gap Pointed chin Hoarse voice Abnormality of the genital system High, narrow palate Thick lower lip vermilion Interphalangeal joint contracture of finger Congenital diaphragmatic hernia Growth hormone deficiency Tapered finger Sleep disturbance Highly arched eyebrow Small hand Ectopic kidney 2-3 toe syndactyly High-pitched cry Limitation of joint mobility Dysphasia Short middle phalanx of finger Mutism Cutaneous syndactyly Long eyelashes Decreased body weight Ambiguous genitalia Microdontia Hypodontia Narrow nasal bridge Paraplegia Synophrys Neurological speech impairment Dystonia Cerebellar atrophy Retinal nonattachment Adactyly Cutis marmorata telangiectatica congenita Aphasia Cutaneous finger syndactyly Self-injurious behavior 2-4 toe syndactyly Overfolded helix Aortic valve stenosis Dandy-Walker malformation Hypopigmentation of the skin Ichthyosis Abnormal cardiac septum morphology Midface retrusion Congestive heart failure Frontal hirsutism Limb hypertonia Enlarged epiphyses Clinodactyly of the 5th toe Aplastic/hypoplastic toenail Narrow naris Congenital microcephaly Cutaneous syndactyly of toes Broad columella Echolalia Low hanging columella Bifid first metacarpal



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Facial asymmetry, related diseases and genetic alterations Abnormality of the skeletal system and Respiratory distress, related diseases and genetic alterations Myopia and Smooth philtrum, related diseases and genetic alterations Optic atrophy and Left ventricular hypertrophy, related diseases and genetic alterations Muscle weakness and Glioma, related diseases and genetic alterations Short stature and Proptosis, related diseases and genetic alterations

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