Brachydactyly, and Decreased fetal movement
Diseases related with Brachydactyly and Decreased fetal movement
In the following list you will find some of the most common rare diseases related to Brachydactyly and Decreased fetal movement that can help you solving undiagnosed cases.
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Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).
THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor
Related symptoms:
- Seizures
- Short stature
- Hearing impairment
- Muscular hypotonia
- Cognitive impairment
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about THANATOPHORIC DYSPLASIA TYPE 2
ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.
ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih
Related symptoms:
- Generalized hypotonia
- Growth delay
- Hypertelorism
- Failure to thrive
- Abnormal facial shape
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about ALG8-CDG
Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.
METATROPIC DYSPLASIA Is also known as metatropic dwarfism
Related symptoms:
- Short stature
- Hearing impairment
- Scoliosis
- Cleft palate
- Cataract
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about METATROPIC DYSPLASIA
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Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987).
THANATOPHORIC DYSPLASIA, TYPE I; TD1 Is also known as thanatophoric dysplasia|lethal short-limbed platyspondylic dwarfism, san diego type|thanatophoric dwarfism|td|platyspondylic lethal skeletal dysplasia, san diego type
Related symptoms:
- Seizures
- Global developmental delay
- Hearing impairment
- Growth delay
- Muscular hypotonia
SOURCES:
OMIM
MENDELIAN
More info about THANATOPHORIC DYSPLASIA, TYPE I; TD1
Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.
OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome
Related symptoms:
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES:
OMIM
MESH
ORPHANET
MENDELIAN
More info about OSTEOCRANIOSTENOSIS
SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)
PRADER-WILLI SYNDROME DUE TO A POINT MUTATION Is also known as schaaf-yang syndrome|pws due to a point mutation|pwls|prader-willi-like syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about PRADER-WILLI SYNDROME DUE TO A POINT MUTATION
GPIBD18 is a severe autosomal recessive developmental disorder characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures. More variable features may include abnormalities of the hands and feet, inguinal hernia, and feeding difficulties. The disorder is part of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Nguyen et al., 2018).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Ataxia
SOURCES:
OMIM
MENDELIAN
More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006). Genetic Heterogeneity of Feingold SyndromeFeingold syndrome-2 (FGLDS2 ) is caused by hemizygous deletion of the MIR17HG gene (OMIM ) on chromosome 13q31.3.
FEINGOLD SYNDROME 1; FGLDS1 Is also known as digital anomalies with short palpebral fissures and atresia of esophagus or duodenum|microcephaly, mental retardation, and tracheoesophageal fistula syndrome|oded syndrome|mmt syndrome|oculodigitoesophagoduodenal syndrome|moded|feingold syndrome|microceph
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about FEINGOLD SYNDROME 1; FGLDS1
Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.
CAREY-FINEMAN-ZITER SYNDROME Is also known as myopathy-moebius-robin syndrome|myopathy, congenital nonprogressive, with moebius sequence and robin sequence
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about CAREY-FINEMAN-ZITER SYNDROME
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.
SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
SOURCES:
ORPHANET
MENDELIAN
More info about SMITH-MAGENIS SYNDROME
Top 5 symptoms//phenotypes associated to Brachydactyly and Decreased fetal movement
Symptoms // Phenotype |
% cases |
Seizures |
Common - Between 50% and 80% cases
|
Short stature |
Common - Between 50% and 80% cases
|
Global developmental delay |
Common - Between 50% and 80% cases
|
Depressed nasal bridge |
Common - Between 50% and 80% cases
|
Hearing impairment |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Brachydactyly and Decreased fetal movement. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Hypertelorism
Abnormal facial shape
Polyhydramnios
Generalized hypotonia
Anteverted nares
Respiratory insufficiency
Clinodactyly
Short nose
Flexion contracture
Scoliosis
Cryptorchidism
Intellectual disability
Microcephaly
Growth delay
Clinodactyly of the 5th finger
Cleft palate
Micromelia
Hydrocephalus
Severe short stature
Patent ductus arteriosus
Kyphosis
Frontal bossing
Skeletal dysplasia
Ventriculomegaly
Muscular hypotonia
Narrow chest
Macrocephaly
Abnormality of the metaphysis
Atrial septal defect
Joint stiffness
Arthrogryposis multiplex congenita
Coarse facial features
Limb undergrowth
Micrognathia
Abnormal form of the vertebral bodies
Talipes equinovarus
Disproportionate short-limb short stature
Short ribs
Failure to thrive
Platyspondyly
Gastroesophageal reflux
Respiratory distress
Increased nuchal translucency
Feeding difficulties
Flared metaphysis
Aplasia/Hypoplasia of the lungs
Cloverleaf skull
High palate
Redundant skin
Rare Symptoms - Less than 30% cases
Midface retrusion
Retrognathia
Absent speech
Prominent forehead
Toe syndactyly
Failure to thrive in infancy
Motor delay
Myopia
Mandibular prognathia
Hyperhidrosis
Flat face
Strabismus
Lethal skeletal dysplasia
Bowing of the long bones
Open mouth
Severe platyspondyly
Polymicrogyria
Short palpebral fissure
Akinesia
Multiple joint contractures
Fetal akinesia sequence
Tapered finger
Cognitive impairment
Talipes
Ptosis
Heterotopia
Sleep disturbance
Micropenis
Constipation
Abnormality of the kidney
Intrauterine growth retardation
Hepatomegaly
Hypospadias
Metaphyseal irregularity
Abnormality of neuronal migration
Proptosis
Cataract
Wide-cupped costochondral junctions
Short neck
Small abnormally formed scapulae
Small foramen magnum
Lethal short-limbed short stature
Short sacroiliac notch
Severe short-limb dwarfism
Small face
Hypoplastic ilia
Short philtrum
Vomiting
Finger clinodactyly
Pulmonary hypoplasia
Upslanted palpebral fissure
Pneumonia
Obesity
Hypoventilation
Asplenia
Wide nasal bridge
Epicanthus
Ascites
Hypertension
Acanthosis nigricans
Abnormal cardiac septum morphology
Single transverse palmar crease
Camptodactyly
Hypothyroidism
Long philtrum
Short femur
Annular pancreas
4-5 toe syndactyly
Small anterior fontanelle
Intestinal atresia
Aplasia of the middle phalanx of the hand
Frontal balding
Depressed nasal tip
Short 5th finger
Duodenal atresia
Accessory spleen
Abnormality of the spleen
Periorbital fullness
Polysplenia
Thick vermilion border
Vocal cord paralysis
Renal insufficiency
Aplasia/Hypoplasia of the middle phalanx of the 5th finger
Finger syndactyly
Blepharophimosis
Aggressive behavior
Macrotia
Posteriorly rotated ears
Syndactyly
Low-set ears
Anal atresia
Sensorineural hearing impairment
Short fourth metatarsal
Long nose
Deep philtrum
Cerebral visual impairment
Gingival overgrowth
Highly arched eyebrow
Facial asymmetry
Oral cleft
External ear malformation
Nephritis
Esophageal atresia
Abnormality of digit
Prominent occiput
Hallux valgus
2-3 toe syndactyly
Short middle phalanx of finger
Tracheoesophageal fistula
Abnormality of the hand
Everted lower lip vermilion
Narrow palpebral fissure
Short toe
Abnormal vertebral morphology
Short thumb
Choanal atresia
Specific learning disability
Triangular face
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
Flushing
Deviation of the 2nd finger
Conductive hearing impairment
Delayed puberty
Synophrys
Neurological speech impairment
Broad forehead
Attention deficit hyperactivity disorder
Feeding difficulties in infancy
Anxiety
Deeply set eye
Retinal detachment
EEG abnormality
Pes planus
Brachycephaly
Hyporeflexia
Abnormality of cardiovascular system morphology
Gait disturbance
Peripheral neuropathy
Delayed speech and language development
Cleft upper lip
Microcornea
Congenital facial diplegia
Self-injurious behavior
Abnormal tracheobronchial morphology
Hyperacusis
Delayed eruption of primary teeth
Large face
Abnormal localization of kidney
Taurodontia
Abnormality of the ureter
Impaired pain sensation
Chronic otitis media
Hypertriglyceridemia
Hand polydactyly
Precocious puberty
Tented upper lip vermilion
Renal hypoplasia/aplasia
Aplasia/Hypoplasia of the corpus callosum
Hypercholesterolemia
Hoarse voice
Stereotypy
Pectoralis hypoplasia
Impaired ocular abduction
Muscle weakness
Thin vermilion border
Relative macrocephaly
Cranial nerve paralysis
Plagiocephaly
Severe muscular hypotonia
Abnormal lung morphology
Cerebral calcification
Broad nasal tip
Ophthalmoplegia
Aplasia/Hypoplasia of the cerebellum
Paralysis
Facial palsy
Hydronephrosis
Elevated serum creatine phosphokinase
Myopathy
Dysphagia
Downslanted palpebral fissures
Skeletal muscle atrophy
Hypoplasia of the brainstem
Bilateral talipes equinovarus
Aplasia of the pectoralis major muscle
Abnormality of the larynx
Hypertensive crisis
Glandular hypospadias
Aplasia/Hypoplasia of the tongue
Nocturnal hypoventilation
Laryngeal stenosis
Oculomotor nerve palsy
Hypoplasia of the musculature
Ulnar deviation of the hand
Villous atrophy
Restrictive ventilatory defect
Pectus carinatum
Trismus
Facial diplegia
Microglossia
Pierre-Robin sequence
Ankylosis
Glossoptosis
Ulnar deviation of finger
Short distal phalanx of finger
Autism
Cerebral cortical atrophy
Abnormality of the intervertebral disk
Flared femoral metaphysis
Anisospondyly
Abnormal enchondral ossification
Cervical instability
Pseudoarthrosis
Caudal appendage
Long thorax
Short diaphyses
Thoracic kyphoscoliosis
Rough bone trabeculation
Spondylometaphyseal dysplasia
Enlarged joints
Flared iliac wings
Abnormal cortical bone morphology
Hypoplastic cervical vertebrae
Flared humeral metaphysis
Abnormal joint morphology
Intellectual disability, profound
Femoral bowing
Radioulnar synostosis
Short long bone
Wide anterior fontanel
Split hand
Epidermal acanthosis
Abnormality of the skeletal system
Snail-like ilia
Absent primary metaphyseal spongiosa
Hyperplasia of the femoral trochanters
Halberd-shaped pelvis
Dumbbell-shaped metaphyses
Long coccyx
Abnormal metaphyseal vascular invasion
Relatively short spine
Hypoplasia of the odontoid process
Short finger
Excessive wrinkled skin
Ventricular septal defect
Large fontanelles
Cholestasis
Hepatic failure
Dyspnea
Thrombocytopenia
Diarrhea
Anemia
Decreased liver function
Occipital encephalocele
Short thorax
Holoprosencephaly
Encephalocele
Limitation of joint mobility
Joint hyperflexibility
Lymphedema
Abnormal intestine morphology
Epiphyseal dysplasia
Low-set, posteriorly rotated ears
Osteoarthritis
Interphalangeal joint contracture of finger
Abnormality of the ribs
Peripheral axonal neuropathy
Confusion
Camptodactyly of finger
Kyphoscoliosis
Tachypnea
High forehead
Respiratory failure
Abnormal isoelectric focusing of serum transferrin
Primary hypothyroidism
Abnormality of the renal tubule
Protein-losing enteropathy
Hypoalbuminemia
Megalencephaly
Craniofacial dysostosis
Inguinal hernia
Adducted thumb
Rocker bottom foot
Impulsivity
Trigonocephaly
Hyperinsulinemia
Pterygium
Poor suck
Sleep apnea
Polyphagia
Microretrognathia
Increased body weight
Exotropia
Narrow forehead
Wide intermamillary distance
Esotropia
Limited elbow extension
Short humerus
Small hand
Intermittent hyperventilation
Hernia
Cerebellar atrophy
Blindness
Visual impairment
Nystagmus
Ataxia
Narrow palm
Delayed ability to walk
Temperature instability
Multiple pterygia
Abnormality of the philtrum
Excessive salivation
Hyperinsulinemic hypoglycemia
Misalignment of teeth
Hyperventilation
Short foot
Inability to walk
Microphthalmia
Cardiac arrest
Thin ribs
Slender long bone
Hypokinesia
Hyperostosis
Growth abnormality
Hypocalcemia
Progressive microcephaly
Severe intrauterine growth retardation
Oligohydramnios
Ambiguous genitalia
Abdominal distention
Recurrent fractures
Small for gestational age
Craniosynostosis
Osteopenia
Aniridia
Radial bowing
Thick eyebrow
Hypoglycemia
Smooth philtrum
Wide mouth
Autistic behavior
Hyperlordosis
Apnea
Neonatal hypotonia
Hypogonadism
Short hallux
Depressivity
Hypoplastic spleen
Overtubulated long bones
Thin clavicles
Aplasia/hypoplasia of the extremities
Ankyloglossia
Decreased skull ossification
Corticospinal tract hypoplasia
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