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.


Top matches:

Medium match THANATOPHORIC DYSPLASIA TYPE 2


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

Medium match ALG8-CDG


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

Medium match METATROPIC DYSPLASIA


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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Other less relevant matches:

Medium match THANATOPHORIC DYSPLASIA, TYPE I; TD1


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

Medium match OSTEOCRANIOSTENOSIS


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

Medium match PRADER-WILLI SYNDROME DUE TO A POINT MUTATION


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

Medium match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18


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

Medium match FEINGOLD SYNDROME 1; FGLDS1


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

Medium match CAREY-FINEMAN-ZITER SYNDROME


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

Medium match SMITH-MAGENIS 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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