Brachydactyly, and Macroglossia

Diseases related with Brachydactyly and Macroglossia

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


Top matches:

Medium match INSULIN-RESISTANCE SYNDROME TYPE A


Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.

INSULIN-RESISTANCE SYNDROME TYPE A Is also known as diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|iran, type a

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Brachydactyly
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INSULIN-RESISTANCE SYNDROME TYPE A

Medium match ANAUXETIC DYSPLASIA


Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017).For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (OMIM ).

ANAUXETIC DYSPLASIA Is also known as spondyloepimetaphyseal dysplasia, menger type|spondyloepimetaphyseal dysplasia, anauxetic type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANAUXETIC DYSPLASIA

Medium match COFFIN-SIRIS SYNDROME 2; CSS2


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.

COFFIN-SIRIS SYNDROME 2; CSS2 Is also known as mrd14|mental retardation, autosomal dominant 14

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 2; CSS2

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Other less relevant matches:

Medium 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

Medium match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Medium match CHONDRODYSPLASIA, GREBE TYPE


Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997).

CHONDRODYSPLASIA, GREBE TYPE Is also known as grebe chondrodysplasia|grebe dysplasia|achondrogenesis, brazilian|acromesomelic dysplasia, grebe type|amdg|achondrogenesis, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA, GREBE TYPE

Medium match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

Medium match LETHAL OSTEOSCLEROTIC BONE DYSPLASIA


Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

LETHAL OSTEOSCLEROTIC BONE DYSPLASIA Is also known as raine syndrome|osteosclerotic bone dysplasia, lethal

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL OSTEOSCLEROTIC BONE DYSPLASIA

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 X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE


X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE Is also known as cabezas syndrome|mrss|mrxs15|mental retardation, x-linked, with short stature|mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait|mental retardation, x-linked, syndromic 15

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, CABEZAS TYPE

Top 5 symptoms//phenotypes associated to Brachydactyly and Macroglossia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% 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
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Microcephaly Anteverted nares Coarse facial features Generalized hypotonia Flexion contracture Cryptorchidism Macrocephaly Short neck Scoliosis Growth delay Hypertelorism Wide mouth Thick lower lip vermilion Midface retrusion Abnormality of the dentition Delayed speech and language development Visual impairment Depressed nasal bridge Mandibular prognathia Absent speech Cerebral cortical atrophy Relative macrocephaly Long philtrum Talipes equinovarus Epicanthus High palate Highly arched eyebrow Sensorineural hearing impairment Small nail Kyphosis Clinodactyly of the 5th finger Intrauterine growth retardation Obesity Inguinal hernia Hernia Hypertrichosis

Rare Symptoms - Less than 30% cases


Hydronephrosis High forehead Thick vermilion border Micrognathia Abnormality of the pinna Hypoplasia of penis Muscular hypotonia Agenesis of corpus callosum Constipation Motor delay Blindness Behavioral abnormality Depressivity Feeding difficulties Low-set ears Downslanted palpebral fissures Nystagmus Arthrogryposis multiplex congenita Prominent forehead Cleft palate Hypoplasia of the corpus callosum Hydrocephalus Hypertonia Talipes Hepatosplenomegaly Clinodactyly Short foot Retrognathia Umbilical hernia Cerebellar atrophy Gingival overgrowth Protruding tongue Pectus carinatum Bulbous nose Depressed nasal ridge Ataxia Limb undergrowth Delayed puberty Sparse hair Joint laxity Kyphoscoliosis Severe short stature Delayed skeletal maturation Cubitus valgus Hirsutism Acanthosis nigricans Increased bone mineral density Pulmonary hypoplasia Hydroureter Dyspnea Distal lower limb amyotrophy Hypophosphatemia Apnea Protruding ear Down-sloping shoulders Scaphocephaly Elevated alkaline phosphatase Abnormality of the genitourinary system Micromelia Restlessness Sleep apnea Narrow palate Striae distensae Plagiocephaly Downturned corners of mouth Microdontia Proptosis Cerebral calcification Choanal atresia Bowing of the long bones Large fontanelles Hypoplasia of dental enamel Biparietal narrowing Cerebellar vermis atrophy Wide anterior fontanel Micropenis Respiratory failure Narrow mouth Abdominal obesity Encephalitis Tented upper lip vermilion Panhypopituitarism Abnormality of the face Recurrent urinary tract infections Aganglionic megacolon Abnormality of earlobe Dysphasia Small earlobe Mood swings Moderately short stature Ambiguous genitalia Everted lower lip vermilion Flat face Self-injurious behavior Male pseudohermaphroditism Thoracic hypoplasia Respiratory insufficiency Brachycephaly Posteriorly rotated ears Pectus excavatum Malar flattening Short nose Respiratory distress Dysphagia Volvulus Abnormal hair pattern Tics Abnormality of the male genitalia Abnormality of fontanelles U-Shaped upper lip vermilion Abnormal hemoglobin Profound global developmental delay Delayed cranial suture closure Cortical dysplasia Abnormality of the musculature Tremor Immunodeficiency Short palm Small hand Intellectual disability, severe Ventriculomegaly Gait disturbance Skeletal muscle atrophy Pes cavus Short fourth metatarsal Increased nuchal translucency Long nose Multiple joint contractures Prominent nose Nausea and vomiting Hypospadias Polymicrogyria Decreased testicular size Camptodactyly of finger Hyperactivity Pes planus EEG abnormality Aggressive behavior Intellectual disability, moderate Blepharophimosis Short philtrum Joint hypermobility Hypogonadism Hyperhidrosis Neurological speech impairment Synophrys Toe syndactyly Joint hyperflexibility Memory impairment Deep philtrum Truncal obesity Cachexia Gingival fibromatosis Generalized osteosclerosis Choanal stenosis Narrow palpebral fissure Sandal gap Osteopetrosis Obstructive sleep apnea Long hallux Large hands Open bite Natal tooth Gait ataxia Cortical gyral simplification Mixed hearing impairment Median cleft lip and palate Brachyturricephaly Interphalangeal joint contracture of finger Short distal phalanx of finger Intention tremor Broad-based gait Finger clinodactyly Short thumb Cerebral visual impairment Single transverse palmar crease Gynecomastia Mandibular aplasia Hepatomegaly Hypoplastic nasal bridge Craniofacial disproportion Alveolar ridge overgrowth Metaphyseal sclerosis Bilateral choanal atresia Abnormality of movement Short phalanx of finger Spastic paraplegia Thoracolumbar kyphoscoliosis Recurrent infections Ptosis Cervical spine instability Hypoplastic iliac body Hypoplasia of the femoral head Increased vertebral height Hypoplasia of the capital femoral epiphysis Poor speech Delayed ossification of carpal bones Shield chest Spondyloepimetaphyseal dysplasia Hypoplastic ilia Broad ribs Ovoid vertebral bodies Abnormality of cardiovascular system morphology Thick eyebrow Metaphyseal dysplasia Absent fifth fingernail Camptodactyly Cerebellar hypoplasia Babinski sign Hyporeflexia Cerebral atrophy Spasticity Absent fifth toenail Wide nose Prominent interphalangeal joints Aplasia/Hypoplasia of the distal phalanges of the hand Shortening of all distal phalanges of the fingers Abnormal corpus callosum morphology Low anterior hairline Long eyelashes Sparse scalp hair Thoracolumbar scoliosis Short femoral neck Abnormality of the cerebral white matter Type II diabetes mellitus Polycystic ovaries Accelerated skeletal maturation Generalized hirsutism Insulin resistance Subcutaneous nodule Epidermal acanthosis Narrow forehead Increased number of teeth Muscle cramps Carious teeth Macrotia Hyperkeratosis Diabetes mellitus Intellectual disability, mild Hyperinsulinemia Generalized hyperpigmentation Metaphyseal irregularity Hypodontia Cone-shaped epiphysis Coxa vara Coxa valga Elbow flexion contracture Lumbar hyperlordosis Nail dysplasia Hyperlordosis Insulin-resistant diabetes mellitus Skeletal dysplasia Generalized hypertrichosis Menstrual irregularities Macroorchidism Prolactin excess Ketoacidosis Growth hormone excess Autistic behavior Inability to walk Joint stiffness Hypoplasia of the ulna Short tibia Fibular hypoplasia Short humerus Prolonged neonatal jaundice Hallux valgus Metatarsus adductus Short middle phalanx of finger Short femur Heart murmur Hypoplasia of the radius Recurrent upper respiratory tract infections Disproportionate short-limb short stature Aortic regurgitation Hydrops fetalis Dysostosis multiplex Short 1st metacarpal Abnormality of the ribs Myopia Feeding difficulties in infancy Abnormality of the kidney Telecanthus Gastroesophageal reflux Autism Optic atrophy Anemia Constrictive median neuropathy Valgus hand deformity Aplasia/Hypoplasia of metatarsal bones Acromesomelia Short digit Aplasia/Hypoplasia involving the metacarpal bones Pes valgus Aplasia/Hypoplasia of the patella Osteoarthritis Postaxial hand polydactyly Delayed eruption of teeth Failure to thrive Severe global developmental delay Hypertrophic cardiomyopathy Patent ductus arteriosus Cardiomyopathy Ventricular septal defect Wide nasal bridge Wide nasal base Bifid uvula Broad philtrum Broad face Dental crowding Short palpebral fissure Apraxia Neuronal loss in central nervous system Thin vermilion border Delayed myelination Postaxial polydactyly Skull asymmetry Paresthesia Genu valgum Jaundice Polydactyly Edema Abnormality of the skeletal system Periorbital fullness Dandy-Walker malformation Severe failure to thrive Cutis marmorata Failure to thrive in infancy Lissencephaly Short chin Left ventricular hypertrophy Ventricular hypertrophy Abnormality of toe



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Visual impairment and Muscular dystrophy, related diseases and genetic alterations Failure to thrive and Short philtrum, related diseases and genetic alterations Nystagmus and Vertigo, related diseases and genetic alterations Muscular hypotonia and Myeloid leukemia, related diseases and genetic alterations Seizures and Dyskinesia, related diseases and genetic alterations Intellectual disability and Micropenis, related diseases and genetic alterations

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