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Living with Intellectual disability-severe speech delay-mild dysmorphism syndrome

A genetic condition (FOXP1 syndrome) with developmental delay and moderate to severe speech delay.

Understanding Intellectual disability-severe speech delay-mild dysmorphism syndrome

FOXP1 syndrome, also called intellectual disability-severe speech delay-mild dysmorphism syndrome, is a disorder with global developmental delay and speech delay.

Moderate to severe speech delay mainly affects expressive speech, and most people have trouble forming words. Common signs include a broad forehead, down-slanting eyelid folds, a short nose with a broad tip, and delayed gross motor skills. Some have autism features or behavior problems. All reported cases were the first in their family (de novo).

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

Global developmental delay
Severe speech delay
Trouble forming words
Autistic behavior
Anxiety
Eye, heart, or urinary tract differences

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
Consider genetic testing
Changes in FOXP1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.

Care & treatment

Care team: Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
Expert care: Ask about multidisciplinary care centers for rare conditions
Treatment: GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research: Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

Connect with International FOXP1 Foundation and other patient organizations
Keep notes on symptoms, changes and questions for appointments
Ask about patient registries that help research
Look into financial aid and travel resources for care visits

Bring these questions to your next doctor visit

Can genetic testing for the FOXP1 gene confirm the diagnosis?

What speech therapy and communication tools could help?

Which heart, eye, and kidney checks does my child need?

Quick facts

Symptoms usually startNewborn and as an Infant

InheritanceAutosomal Dominant

GenesFOXP1

Changes in the FOXP1 gene cause this condition. It follows an autosomal dominant pattern, and all reported cases were new in the family (de novo).

GeneticNeurological

Also known as: foxp1 haploinsufficiency; foxp1 syndrome; foxp1-related neurodevelopmental disorder; iddla; intellectual developmental disorder with language impairment and with or without autistic features; mental retardation with language impairment and autistic features

Patient organizations

International FOXP1 FoundationIntellectual disability-severe speech delay-mild dysmorphism syndrome · United States
Simons SearchlightIntellectual disability-severe speech delay-mild dysmorphism syndrome · United States

Source: NIH GARD · Intellectual disability-severe speech delay-mild dysmorphism syndromeGARD ID 12501 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

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