Short stature, and Macroglossia

Diseases related with Short stature and Macroglossia

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


Top matches:

Medium match ATHYREOSIS


Athyreosis is a form of thyroid dysgenesis (see this term) characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about ATHYREOSIS

Medium match THYROID HYPOPLASIA


Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscular hypotonia
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about THYROID HYPOPLASIA

Low match THYROID ECTOPIA


Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about THYROID ECTOPIA

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Other less relevant matches:

Low match X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE


Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE

Low match ZIMMERMANN-LABAND SYNDROME 2; ZLS2


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

Low match FAMILIAL THYROID DYSHORMONOGENESIS


Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.

FAMILIAL THYROID DYSHORMONOGENESIS Is also known as iodine accumulation, transport, or trapping defect|thyroid hormonogenesis, genetic defect in, 1|thyroid dyshormonogenesis|hypothyroidism, congenital, due to dyshormonogenesis, 1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL THYROID DYSHORMONOGENESIS

Low match DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME


Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Low match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2


In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Is also known as rtsh|thyroid agenesis|thyrotropin resistance|resistance to thyrotropin|thyroid, ectopic|hypothyroidism, athyreotic|athyreotic hypothyroidism|hypothyroidism, congenital, due to thyroid dysgenesis|thyroid hypoplasia|thyroid dysgenesis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6


MDDGB6 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6 Is also known as mdc1d|muscular dystrophy, congenital, large-related|muscular dystrophy, congenital, type 1d

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6

Low match COFFIN-SIRIS SYNDROME 4; CSS4


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 SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 4; CSS4 Is also known as mrd16|mental retardation, autosomal dominant 16

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 4; CSS4

Top 5 symptoms//phenotypes associated to Short stature and Macroglossia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Coarse facial features Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Constipation Hypothyroidism Abdominal distention Generalized hypotonia Large fontanelles Hearing impairment Abnormality of the face Umbilical hernia Intellectual disability, severe Ectopic thyroid Thyroid agenesis Jaundice Fatigue Hypersomnia

Rare Symptoms - Less than 30% cases


Scoliosis Congenital hypothyroidism Goiter Dry skin Lethargy Long eyelashes Hypertrichosis Thick eyebrow Kyphosis Sensorineural hearing impairment Delayed skeletal maturation Hirsutism Seizures Microcephaly Thyroid hypoplasia Muscle weakness Upslanted palpebral fissure Feeding difficulties Proximal muscle weakness Elevated serum creatine phosphokinase Babinski sign Cerebellar hypoplasia Intrauterine growth retardation Facial palsy Muscular dystrophy Limb muscle weakness Lower limb muscle weakness Waddling gait Abnormality of the cerebral white matter Myopia Cerebellar atrophy Ventriculomegaly Motor delay Flexion contracture Strabismus Nystagmus Thyroid hemiagenesis Thyroid dysgenesis Large posterior fontanelle Hoarse cry Increased thyroid-stimulating hormone level Hypothermia Spondyloepiphyseal dysplasia Myotonia Thick nasal alae Intellectual disability, profound Depressed nasal bridge Hyperbilirubinemia Visual impairment Mild myopia Cerebellar cyst Anteverted nares Abnormality of cardiovascular system morphology Wide mouth Decreased light- and dark-adapted electroretinogram amplitude Achilles tendon contracture Abnormality of the periventricular white matter Wide nose Lower limb hyperreflexia Myopathic facies Abnormality of neuronal migration Abnormal corpus callosum morphology Skeletal muscle hypertrophy Hypoplasia of the brainstem Congenital muscular dystrophy Dandy-Walker malformation Sparse scalp hair Gowers sign Abnormal electroretinogram EMG: myopathic abnormalities Elbow flexion contracture Horizontal nystagmus Joint contracture of the hand Pachygyria Open mouth Stridor Kyphoscoliosis Bradycardia Abnormal facial shape Widow's peak Anonychia Deep philtrum Gingival overgrowth Depressed nasal ridge Small nail Underdeveloped nasal alae Thick vermilion border Joint hypermobility Synophrys Short neck Wide nasal bridge Dry hair Broad eyebrow Spastic diplegia Cupped ear Brittle hair Narrow face Triangular face Long face Nail dystrophy Protruding ear Atrial septal defect Epicanthus Spasticity Abnormality of the thyroid gland Bifid nasal tip Prominent nasal septum Abnormal vertebral morphology Micromelia Growth hormone deficiency Feeding difficulties in infancy Carcinoma Externally rotated hips Achalasia Bulbar signs Hypoplastic scapulae Mild global developmental delay Generalized dystonia Neurodegeneration Cleft upper lip Oral cleft Small for gestational age Neoplasm Mental deterioration Cleft lip High forehead Immunodeficiency Intellectual disability, mild Dystonia Blindness Abnormality of the skeletal system Dysphagia Cataract Cleft palate Hypertelorism Oligodontia Aplasia/Hypoplasia of the distal phalanges of the hand



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