Brachydactyly, and Apraxia

Diseases related with Brachydactyly and Apraxia

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


Top matches:

Low match INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME


Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

Low match SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hepatomegaly
  • Brachydactyly
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10

Low match PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME


Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.

PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME Is also known as palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20


Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Low match OROFACIODIGITAL SYNDROME TYPE 6


Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

Low match JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY


Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.

JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY Is also known as jbts with jatd|joubert syndrome with jatd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY

Low match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Low match BARDET-BIEDL SYNDROME 4; BBS4


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

Low match DISTAL 22Q11.2 MICRODELETION SYNDROME


Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.

DISTAL 22Q11.2 MICRODELETION SYNDROME Is also known as distal del(22)(q11.2)|distal monosomy 22q11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DISTAL 22Q11.2 MICRODELETION SYNDROME

Low match ATYPICAL RETT SYNDROME


Atypical Rett syndrome (atypical RTT) is a neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT; see this term).

ATYPICAL RETT SYNDROME Is also known as atypical rtt|rett syndrome variant|autism, dementia, ataxia, and loss of purposeful hand use|rts

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATYPICAL RETT SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Apraxia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Apraxia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Clinodactyly

Uncommon Symptoms - Between 30% and 50% cases


Oculomotor apraxia Cryptorchidism Growth delay Microcephaly Low-set ears Hypertelorism Frontal bossing Hypospadias Clinodactyly of the 5th finger Kyphoscoliosis Constipation Epicanthus Delayed speech and language development Ventriculomegaly Thin upper lip vermilion Retinal dystrophy Failure to thrive Apnea Underdeveloped nasal alae Abnormality of the skeletal system Cognitive impairment Inguinal hernia Spasticity Intellectual disability, mild Polydactyly Absent speech Anxiety Abnormal cerebellum morphology Micrognathia Cerebellar vermis hypoplasia High palate Prominent nasal bridge Postaxial polydactyly Highly arched eyebrow Camptodactyly of finger Hearing impairment Babinski sign Cerebellar hypoplasia Abnormality of the dentition Ataxia Atrial septal defect Gastroesophageal reflux Strabismus Anteverted nares Finger clinodactyly

Rare Symptoms - Less than 30% cases


Joint hypermobility Prominent nose Language impairment Supernumerary nipple Short foot Attention deficit hyperactivity disorder Hydronephrosis Short thumb Downturned corners of mouth Gait ataxia Skeletal muscle atrophy Tethered cord Dysarthria Hyperreflexia Clonus Abnormality of the fingernails Wide mouth Spastic paraparesis Long face Aggressive behavior Deeply set eye Hyperactivity Joint hyperflexibility Intrauterine growth retardation Neoplasm Recurrent respiratory infections Meningocele Trigonocephaly Tachypnea Renal dysplasia Smooth philtrum Dandy-Walker malformation Broad nasal tip Toe syndactyly Abnormality of the hand Feeding difficulties in infancy Low-set, posteriorly rotated ears Abnormality of the nervous system Conductive hearing impairment Posteriorly rotated ears Abnormal heart morphology Dilatation Syndactyly Intellectual disability, severe Gait disturbance Cleft palate Muscular hypotonia Abnormal facial shape Speech apraxia Tremor Molar tooth sign on MRI Nyctalopia Short palpebral fissure Long philtrum Thoracic hypoplasia Cone-shaped epiphysis Cerebellar atrophy Short ribs Macrocephaly Sensorineural hearing impairment Inability to walk Nystagmus Thick vermilion border Scoliosis Cone-shaped epiphyses of the phalanges of the hand Hypertrichosis Ventricular septal defect Oral cleft Retinal degeneration Genu valgum Autistic behavior Cleft lip Visual loss Obesity Renal insufficiency Bell-shaped thorax Blindness Motor delay Downslanted palpebral fissures Feeding difficulties Prominent forehead Coarse facial features Wide nasal bridge Camptodactyly Cerebral cortical atrophy Proportionate short stature Villous atrophy Upslanted palpebral fissure Delayed skeletal maturation Hyperextensibility of the finger joints Enlarged joints 11 pairs of ribs Enuresis Short clavicles Short attention span Abnormality of the clavicle Broad columella Short columella Lipoma Sprengel anomaly Joint stiffness Short upper lip Stiff neck Headache Curved fingers Enlarged naris Short neck Hepatosplenomegaly Epididymal cyst Vomiting Abnormality of cardiovascular system morphology Spinal dysraphism Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Varicocele Expressive language delay High pitched voice Celiac disease Impulsivity Preauricular pit Hyporeflexia Hirsutism Bulbous nose Thin vermilion border Talipes equinovarus Arthritis Poor speech Malabsorption Hypermetropia Hypoplasia of the maxilla Joint laxity Small for gestational age Neurological speech impairment Short philtrum Telecanthus Intellectual disability, moderate Postnatal growth retardation Craniosynostosis Small hand Triangular face Cerebral atrophy Long eyelashes Clubbing Hypothyroidism Abnormality of the voice Nasal speech Mandibular prognathia Nephrocalcinosis Generalized hirsutism Broad thumb Dental malocclusion Recurrent otitis media Low posterior hairline Broad fingertip Coarctation of aorta Hypoplasia of penis Microdontia Otitis media Umbilical hernia Interphalangeal joint contracture of finger Brachycephaly Abnormal soft palate morphology Progressive neurologic deterioration Cachexia Abnormality of the metacarpal bones Cerebral palsy Accelerated skeletal maturation Paraparesis Truncal ataxia Nephrolithiasis Postnatal microcephaly Fine hair Alzheimer disease Intellectual disability, profound Generalized-onset seizure Wide nose Confusion Abnormality of movement Muscular dystrophy Paralysis Developmental regression Mental deterioration Aplasia/Hypoplasia of the cerebellum Prolonged QT interval Rigidity Esodeviation Hypocapnia Nonprogressive encephalopathy Intermittent hyperventilation Abnormality of the antitragus Respiratory alkalosis Short distal phalanx of the thumb Abnormal muscle tone Prolonged QTc interval Abnormal T-wave Thoracic scoliosis Astrocytosis Motor deterioration Developmental stagnation Alkalosis Bruxism Hyperventilation Progressive encephalopathy Loss of speech Overweight Muscular hypotonia of the trunk EEG abnormality Generalized cerebral atrophy/hypoplasia Narrow mouth High, narrow palate Short distal phalanx of finger Short palm Arachnodactyly Facial asymmetry Blepharophimosis Hyperlordosis Pes planus Depressivity Choanal atresia Immunodeficiency Malar flattening External genital hypoplasia Anosmia Renal cyst Reduced visual acuity Hypogonadism Rod-cone dystrophy Mesocardia Premature birth Bowing of the long bones Autism Tics Dementia Encephalopathy Kyphosis Dystonia Branchial fistula Absent fingernail Absent toenail Abnormality of earlobe Ankyloglossia Truncus arteriosus Recurrent urinary tract infections Ulnar deviation of finger Bowel incontinence Obsessive-compulsive behavior Aortic aneurysm Pyloric stenosis Aortic regurgitation Sandal gap Coxa valga Pointed chin Hypertension Dysgenesis of the cerebellar vermis Aplasia/Hypoplasia involving bones of the thorax Spastic gait Hammertoe Impaired vibratory sensation Emotional lability Hepatic failure Slurred speech Drooling Postaxial hand polydactyly Hoarse voice Hallucinations Ankle clonus Progressive muscle weakness Lower limb spasticity Choreoathetosis Psychosis Overgrowth Specific learning disability Cholestasis Gliosis Spastic diplegia Scleroderma Sleep disturbance Abnormality of the nares Hyperextensible hand joints Morphea Suicidal ideation Narrow jaw Panic attack Knee clonus Abnormal hand morphology Abnormality of brain morphology Overbite Cerebellar vermis atrophy Mood swings Upper limb spasticity Stage 5 chronic kidney disease Spastic dysarthria Abnormality of the thumb Dysuria Upper limb muscle weakness Premature loss of teeth Ankle contracture Short phalanx of finger Rhizomelia Fever Hypoplastic toenails Lateral clavicle hook Chordee Delayed CNS myelination Central hypotonia Syringomyelia Spinal canal stenosis Narrow nasal bridge Ptosis Patent foramen ovale Narrow nasal tip Bilateral ptosis Widely spaced teeth Abnormal vertebral morphology Exotropia Blue sclerae Delayed myelination Tapered finger Hypoplasia of the corpus callosum Hypertonia Lower limb hypertonia Cerebral white matter hypoplasia Distal amyotrophy Pes cavus Dysmetria Lower limb muscle weakness Paraplegia Abnormality of the foot Spastic paraplegia Hepatic fibrosis Difficulty walking Short long bone Pectus excavatum Thoracic dysplasia Midface retrusion Chronic kidney disease Behavioral abnormality Dysphagia Glucose intolerance Flexion contracture Visual field defect Nephronophthisis Muscle weakness Hyperplasia of midface Splenomegaly Abnormality of the 5th metacarpal Wide intermamillary distance Redundant neck skin Dilation of lateral ventricles Chronic lung disease Enlarged cisterna magna Occipital encephalocele Absent septum pellucidum Overfolded helix Increased intracranial pressure Elevated hepatic transaminase Abnormality of the basal ganglia Abnormality of the cerebral white matter Talipes Myopia Depressed nasal bridge Central Y-shaped metacarpal Midline notch of upper alveolar ridge Y-shaped metacarpals Occipital meningocele Colpocephaly Abnormal corpus callosum morphology Hypoplasia of olfactory tract Cervical spinal canal stenosis Twelfth rib hypoplasia Early ossification of capital femoral epiphyses Rhizomelic leg shortening Open operculum Subretinal deposits Small cervical vertebral bodies Rhizomelic arm shortening Dilated third ventricle Synophrys Hyperechogenic kidneys Abnormality of the acetabulum Proximal femoral metaphyseal irregularity Elongated superior cerebellar peduncle Short digit Renal cortical cysts Duane anomaly Abnormality of the optic disc Recurrent aspiration pneumonia Long clavicles Mesoaxial hand polydactyly Bulimia Hernia Relative macrocephaly Renal hypoplasia/aplasia Macroglossia Aplasia/Hypoplasia of the corpus callosum Neuronal loss in central nervous system Renal agenesis Esotropia Dental crowding Cleft upper lip Broad face Preaxial polydactyly Broad philtrum Abnormality of the kidney Wide nasal base Hepatomegaly Respiratory insufficiency Micropenis Respiratory distress Agenesis of corpus callosum Hydrocephalus Polycystic kidney dysplasia Hand polydactyly Hypothalamic hamartoma Short femur Episodic tachypnea Mesoaxial polydactyly Tongue nodules Hamartoma of tongue Lobulated tongue Abnormal oral frenulum morphology Accessory oral frenulum Preaxial foot polydactyly Foot polydactyly Delayed eruption of teeth Hamartoma Biparietal narrowing Partial agenesis of the corpus callosum Tibial bowing Abnormal retinal morphology Abnormality of neuronal migration Preaxial hand polydactyly Bilateral cryptorchidism Radial deviation of finger Gait apraxia



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